Genetic Disorders and Biochemical Pathology — Flashcards
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Which epileptic syndrome has been associated with mutations in genes: ? _____
The following symbol represents _____zygotic twins on a pedigree chart
Homocystinuria I due to decreased affinity of cystathionine synthase for B6 is treated with very increased _____ and increased cysteine in the diet
_____ is caused by a defect of renal PCT and intestinal amino acid transporters, preventing reabsorption of cystine, ornithine, lysine, and arginine
The enzyme _____ is deficient in Gaucher disease
Nonhomologous End Joining is defective in _____ and Ataxia Telangiectasia
X-linked recessive Ichthyosis is due to a mutation in _____ gene encoding steroid sulfatase enzyme
Dermatosparaxis type of Ehlers Danlos syndrome (Type _____) is due to deficiency of procollagen N-peptidase
_____ is due to defects in the ATM gene
_____ is characterized by a deficiency of the enzyme aldolase B
Genetic Disorders and Biochemical Pathology Indian Medical PG Flashcards - Medical Study Cards
Master Genetic Disorders and Biochemical Pathology with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Genetic Disorders and Biochemical Pathology Flashcard Deck - 209 Cards
Flashcard 1: Which epileptic syndrome has been associated with mutations in genes: ? _____
Answer: Juvenile myoclonic epilepsy
Flashcard 2: The following symbol represents _____zygotic twins on a pedigree chart
Answer: di
Flashcard 3: Homocystinuria I due to decreased affinity of cystathionine synthase for B6 is treated with very increased _____ and increased cysteine in the diet
Answer: B6
Flashcard 4: _____ is caused by a defect of renal PCT and intestinal amino acid transporters, preventing reabsorption of cystine, ornithine, lysine, and arginine
Answer: Cystinuria
Flashcard 5: The enzyme _____ is deficient in Gaucher disease
Answer: glucocerebrosidase (-glucosidase)
Flashcard 6: Nonhomologous End Joining is defective in _____ and Ataxia Telangiectasia
Answer: SCID
Flashcard 7: X-linked recessive Ichthyosis is due to a mutation in _____ gene encoding steroid sulfatase enzyme
Answer: STS
Flashcard 8: Dermatosparaxis type of Ehlers Danlos syndrome (Type _____) is due to deficiency of procollagen N-peptidase
Answer: VII c
Flashcard 9: _____ is due to defects in the ATM gene
Answer: Ataxia-Telangiectasia
Flashcard 10: _____ is characterized by a deficiency of the enzyme aldolase B
Answer: Hereditary fructose intolerance
Flashcard 11: The enzyme _____ is deficient in metachromatic leukodystrophy
Answer: arylsulfatase A
Flashcard 12: The enzyme _____ is deficient in Tay-Sachs disease
Answer: hexosaminidase A
Flashcard 13: _____ disease is caused by a deficiency of the enzyme branching enzyme
Answer: Andersen
Flashcard 14: Enzyme Replacement Therapy for _____ disease requires replacement of alpha-1,4-glucosidase (aka acid maltase)
Answer: Pompe
Flashcard 15: Duchenne muscular dystrophy is associated with increased serum _____ and aldolase
Answer: CK
Flashcard 16: What substrates accumulate in the lysosomes of a patient with Krabbe disease? _____ and psychosine
Answer: Galactocerebroside
Flashcard 17: CGG _____ in FMR1 gene leads to gain of function and is seen in Fragile X-associated primary ovarian failure, along with Fragile X-ataxia.
Answer: premutation
Flashcard 18: The enzyme _____ is deficient in HurLer syndrome
Answer: -L-iduronidase
Flashcard 19: _____ disease is caused by a deficiency of the enzyme lysosomal -1,4-glucosidase (acid maltase)
Answer: Pompe
Flashcard 20: A amyloid is derived from _____ protein, which is encoded on chromosome 21
Answer: amyloid precursor
Flashcard 21: Patients with Werner syndrome show premature _____ due to defective DNA helicase
Answer: aging
Flashcard 22: The enzyme _____ is deficient in Fabry disease
Answer: -galactosidase A
Flashcard 23: Deficiency of the enzyme _____ causes alkaptonuria
Answer: homogentisate oxidase
Flashcard 24: Mutation in _____ gene on chromosome 4 is the cause behind facioscapulohumeral dystrophy
Answer: DUX4
Flashcard 25: _____ porphyria is due to deficiency of enzyme protoporphyrinogen oxidase
Answer: Variegate
Flashcard 26: Treatment of Von Gierke disease includes frequent oral _____ or cornstarch between meals
Answer: glucose
Flashcard 27: Enzyme Replacement Therapy for _____ disease requires replacement of Glucocerebrosidase
Answer: Gaucher
Flashcard 28: IL-_____ and ADAM33 polymorphisms are found in patients of asthma
Answer: 4
Flashcard 29: _____ diseases often demonstrate variable expression in a population or within a family due to heteroplasmy
Answer: Mitochondrial
Flashcard 30: What substrates (2) accumulate in the lysosomes of a patient with Hurler syndrome? _____ and dermatan sulfate
Answer: Heparan sulfate
Flashcard 31: The _____ variant of G6PD deficiency results in mildly reduced half-life of G6PD
Answer: African
Flashcard 32: Werdnig-Hoffmann (SMA Type 1) is caused by an _____ inherited mutation in the SMN1 gene on chromosome 5q, which factilitates the assembly of snRNPs
Answer: autosomal recessive
Flashcard 33: _____ builds up in Type I tyrosinemia and takes an alternate pathway to convert to Succinylacetone
Answer: Fumaryacetoacetate
Flashcard 34: Raised _____ levels are used in neonatal screening for Type I tyrosinemia
Answer: succinylacetone
Flashcard 35: Reye syndrome may occur due to decreased _____ secondary to reversible inhibition of mitochondrial enzymes in hepatocytes by aspirin metabolites
Answer: -oxidation
Flashcard 36: _____ syndrome is caused by an activating mutation in one copy of the GNAQ gene
Answer: Sturge-Weber
Flashcard 37: _____ is a tumor suppressor gene that encodes for the protein Hamartin
Answer: TSC1
Flashcard 38: The enzyme _____ is deficient in Niemann Pick disease
Answer: sphingomyelinase
Flashcard 39: Deficiency of the enzyme _____ causes maple syrup urine disease
Answer: branched-chain -ketoacid dehydrogenase
Flashcard 40: Maple syrup urine disease causes increased _____ in the blood, especially those of leucine
Answer: -ketoacids
Flashcard 41: _____ is characterized by hypocalcemia, hyperphosphatemia, and high PTH.
Answer: Pseudohypoparathyroidism
Flashcard 42: Deficiency of the enzyme _____ causes albinism
Answer: tyrosinase
Flashcard 43: _____ is characterized by a defect in the fructokinase enzyme
Answer: Essential fructosuria
Flashcard 44: _____ syndrome is due to a mutation in the STAT3 gene
Answer: Job (hyper-IgE)
Flashcard 45: Friedreich ataxia is caused by a mutated _____ gene on chromosome 9
Answer: frataxin
Flashcard 46: Affected genes in diaphyseal aclasis are EXT1 and EXT2 located on chromosome _____ and 11 respectively
Answer: 8
Flashcard 47: _____ is due to defect of the enzyme isovaleryl-coA dehydrogenase
Answer: Isovaleric aciduria
Flashcard 48: _____ disease presents with deficiency of Hexosaminidase A and B
Answer: Sandhoff's
Flashcard 49: Enzyme Replacement Therapy for _____ requires replacement of alpha-galactosidase A
Answer: Fabry Disease
Flashcard 50: In _____ syndrome, the maternal gene is imprinted and the paternal gene is mutated/deleted
Answer: Prader-Willi
Flashcard 51: HHH syndrome is characterised by _____, hyperornithinemia and homocitrullinuria
Answer: hyperammonemia
Flashcard 52: _____ syndrome is due to a trinucleotide repeat in the FMR1 gene
Answer: Fragile X
Flashcard 53: Type I plasminogen deficiency (hypoplasminogenemia) is due to an _____ mutation in the PLG gene
Answer: autosomal recessive
Flashcard 54: Acrodermatitis enteropathica is caused by a mutation in the intestinal zinc transporter gene,_____, found on chromosome 8q24.3
Answer: SLC39A4
Flashcard 55: Type _____ Tyrosinemia presents with Hepatic and renal insufficiency
Answer: I
Flashcard 56: The _____ allele of apolipoprotein E on chromosome 19 is associated with increased risk for Alzheimer disease
Answer: 4
Flashcard 57: _____ occurs due to the inability to convert orotic acid to UMP due to a defect in the enzyme UMP synthase (pyrimidine synthesis)
Answer: Orotic aciduria
Flashcard 58: _____ is caused by inactivating mutations of the Ca2+-sensing receptors that regulate PTH secretion
Answer: Familial hypocalciuric hypercalcemia (FHH)
Flashcard 59: Crigler-Najjar syndrome type _____ is less severe and responds to phenobarbital, which increases liver enzyme synthesis
Answer: II
Flashcard 60: The _____ allele of apolipoprotein E is associated with decreased risk for Alzheimer disease
Answer: 2
Flashcard 61: _____ disrupts the peroxisomal metabolism of very-long-chain fatty acids, resulting in excessive buildup in the nervous system, adrenal gland, and testes
Answer: Adrenoleukodystrophy
Flashcard 62: If a uniparental disomy results in a _____ offspring, there may have been a meiosis I error
Answer: heterozygous
Flashcard 63: Cystic fibrosis most commonly occurs due to a _____ deletion of Phe508
Answer: frameshift
Flashcard 64: The TSC1 gene encodes for _____ and is located on chromosome 9 (mutated in tuberous sclerosis)
Answer: hamartin
Flashcard 65: Wilson disease is characterized by _____ urinary copper
Answer: increased
Flashcard 66: In 5-alpha-reductase deficiency, there are _____ levels of testosterone and normal/increased levels of LH
Answer: normal
Flashcard 67: _____ mutations cause "syndrome of apparent mineralocorticoid excess" where cortisol activates mineralocorticoid receptor and results in hypertension and hypokalemia.
Answer: 11-beta-HSD2
Flashcard 68: Gilbert syndrome occurs due to _____ defect of the UGT1A1 enzyme gene.
Answer: promoter
Flashcard 69: Familial cases of Alzheimer disease are associated with mutations in _____ and presenilin-2
Answer: presenilin-1
Flashcard 70: -thalassemia is often due to mutations in _____ and promoter sequences
Answer: splice sites
Flashcard 71: Type _____ Tyrosinemia is also called Neonatal tyrosinemia and is due to deficiency of enzyme 4-hydroxyphenylpyruvate dioxygenase (4-HPPD)
Answer: 3
Flashcard 72: _____ protoporphyria is caused by the deficiency of the enzyme ferrochelatase
Answer: Erythropoetic
Flashcard 73: Enzyme Replacement Therapy for _____ requires replacement of alpha-L-iduronidase
Answer: Hurler Syndrome
Flashcard 74: The enzyme _____ is deficient in Krabbe disease
Answer: galactocerebrosidase
Flashcard 75: _____ syndrome is Abetalipoprotenemia and acanthocytosis + RP
Answer: Bassen Kornzweig
Flashcard 76: _____ is due to deficiency of the enzyme porphobilinogen deaminase
Answer: Acute intermittent porphyria
Flashcard 77: _____ is due to a defect in the CFTR gene on chromosome 7
Answer: Cystic fibrosis
Flashcard 78: Homocystinuria I due to _____ deficiency is treated with decreased methionine and increased cysteine, B6, B12, and folate in the diet
Answer: cystathionine synthase
Flashcard 79: _____ is due to defect in the metabolism of leucine following branched chain metabolism (BCKDH)
Answer: Isovaleric aciduria
Flashcard 80: Type _____ tyrosinemia is characterised by the deficiency of enzyme aminotransferase
Answer: II
Flashcard 81: Deficiency of the enzyme _____ causes phenylketonuria (PKU)
Answer: phenylalanine hydroxylase
Flashcard 82: The TSC2 gene encodes for _____ and is located on chromosome 16 (mutated in tuberous sclerosis)
Answer: tuberin
Flashcard 83: Type III familial dyslipidemia is confirmed by genetic analysis that shows absence of E_____ and E4 Apo alleles
Answer: 3
Flashcard 84: The enzyme _____ is deficient in HunTer syndrome
Answer: iduronaTe-2-sulfatase
Flashcard 85: Adrenoleukodystrophy is due to a mutation in a _____ membrane transporter, preventing very long chain fatty acids (VLCFAs) from being tagged with coenzyme A
Answer: peroxisomal
Flashcard 86: Huntington disease is caused by expanded trinucleotide repeats of CAG in the _____ gene on chromosome 4
Answer: huntingtin
Flashcard 87: Apart from Apo E4 mutation, late-onset Alzheimer's is also associated with _____ mutation on chromosome 6
Answer: TREM2
Flashcard 88: The _____ variant of G6PD deficiency results in markedly reduced half-life of G6PD
Answer: Mediterranean
Flashcard 89: _____ syndrome is due to mildly low UDP-glucuronyl transferase activity
Answer: Gilbert
Flashcard 90: In _____ syndrome, the paternal gene is imprinted and the maternal gene is mutated/deleted
Answer: Angelman
Flashcard 91: Citrullinemia type _____ is due to citrin defect.
Answer: ll
Flashcard 92: _____ is due to mutations in the ATP7B gene on chromosome 13
Answer: Wilson disease
Flashcard 93: The frataxin gene is essential for _____ iron regulation
Answer: mitochondrial
Flashcard 94: Treatment for acute intermittent porphyria include _____ and glucose, which inhibit ALA synthesis
Answer: heme
Flashcard 95: _____ is a defect in the enzyme propionyl-CoA carboxylase
Answer: Propionic acidemia
Flashcard 96: If a uniparental disomy results in a _____ offspring, there may have been a meiosis II error
Answer: homozygous
Flashcard 97: _____ disease is caused by impaired copper absorption and transport due to a defect in the ATP7A gene
Answer: Menkes
Flashcard 98: Deficiency of _____ leads to Canavan disease
Answer: aspartoacylase
Flashcard 99: Treatment for phenylketonuria includes a diet low in _____ with supplemental tyrosine +/- tetrahydrobiopterin
Answer: phenylalanine
Flashcard 100: The G1 restriction point of the cell cycle is regulated by the tumor suppressors _____ and Rb
Answer: p53
Flashcard 101: Refsumm disease is an _____ metabolic disorder caused by defective alpha-oxidation
Answer: autosomal recessive
Flashcard 102: The enzyme _____ is deficient in Lesch-Nyhan syndrome
Answer: HGPRT
Flashcard 103: Pyruvate dehydrogenase deficiency presents with _____ defects and lactic acidosis
Answer: neurologic
Flashcard 104: _____ syndrome is due to absent UDP-glucuronyl transferase activity
Answer: Crigler-Najjar
Flashcard 105: Wilson disease results in lack of copper transport into _____ and lack of incorporation into ceruloplasmin
Answer: bile
Flashcard 106: Partial deficiency of _____ causes Kelley-Seegmiller syndrome.
Answer: HGPRTase
Flashcard 107: In OTC deficiency, patients present with _____glycemia due to decrease in glutamate levels
Answer: hypo
Flashcard 108: Propionic acidemia results in _____ levels of propionyl-CoA and decreased levels of methylmalonic acid
Answer: increased
Flashcard 109: _____ syndrome is an inherited defect in alpha 2 chain of type IV collagen
Answer: Alport
Flashcard 110: _____ is a tumor suppressor gene that encodes for the protein Tuberin
Answer: TSC2
Flashcard 111: Homocystinuria III due to _____ deficiency is treated with increased methionine in the diet
Answer: methionine synthase
Flashcard 112: _____, also known as mucolipidosis type I, is a rare inherited metabolic disorder characterized by a deficiency of the enzyme neuraminidase
Answer: Sialidosis
Flashcard 113: Mutation of the genes encoding _____ causes juvenile hemochromatosis
Answer: hemojuvelin (HJV)
Flashcard 114: What is the mode of inheritence of Hereditary Hemorrhagic Telangectasia?_____
Answer: Autosomal Dominant
Flashcard 115: Which gene mutation is implicated in Imerslund-Grasbeck syndrome?_____
Answer: AMN
Flashcard 116: OAT gene for gyrate atrophy is located on chromosome _____.
Answer: 10
Flashcard 117: Sphinomyelinase gene is present on chromosome _____
Answer: 11
Flashcard 118: What is the mode of inheritence of congenital erythropoetic porphyria?_____
Answer: Autosomal recessive
Flashcard 119: Alagille syndrome is associated with mutations in _____ gene in 90% of patients
Answer: JAG1
Flashcard 120: What is the mode of inheritence of Behr's syndrome?_____
Answer: Autosomal recessive
Flashcard 121: Occipital horn syndrome (Ehlers Danlos-IX; cutis laxa) occurs due to _____ gene mutation
Answer: ATP7A
Flashcard 122: Which step of thyroid hormone synthesis is impaired in pendred syndrome?_____
Answer: organification
Flashcard 123: Fish odor syndrome is also called as _____
Answer: trimethylaminuria
Flashcard 124: Which enzyme deficiency is seen in EDS type VI?_____
Answer: Lysyl hydroxylase-1
Flashcard 125: The COCH gene, may contribute to Meniere's disease and is located on the long arm (q) of chromosome _____
Answer: 14
Flashcard 126: Bartter's syndrome is associated with _____ PGE2 levels
Answer: high
Flashcard 127: Harlequin ichthyosis is due to mutations of the _____ genes
Answer: ABCA12
Flashcard 128: _____ syndrome is a rare multisystem disorder of copper metabolism with features of both Wilsons and Menkes disease.
Answer: MEDNIK
Flashcard 129: Secretion of intrinsic factor and gastric acid is _____ in patients of Imerslund-Grasbeck syndrome
Answer: normal
Flashcard 130: In Wilson disease, hepatic copper content usually exceeds _____ g/g dry weight.
Answer: 250
Flashcard 131: Piebaldism is a benign condition, and has mutations in _____.
Answer: c KIT
Flashcard 132: The compound that accumulates in the tissues in ochronosis is _____.
Answer: benzoquinone acetate
Flashcard 133: Fish odor syndrome is due to deficiency of enzyme _____
Answer: flavin-containing monoxygenase 3
Flashcard 134: _____ test is used to detect alkaptonuria and phenylketonuria.
Answer: FeCl3 (Biochemical)
Flashcard 135: A cerebrohepatorenal syndrome is a rare inherited absence of _____
Answer: peroxisomes
Flashcard 136: Mutations in _____ are linked with epileptic encephalopathies and early-onset absence seizures
Answer: SLC2A1
Flashcard 137: The gene for -1 antitrypsin is located on long arm of chromosome _____.
Answer: 14
Flashcard 138: Maple syrup urine disease (MSUD) type I is due to impaired alpha-Ketoacid de-_____ component of BCKAD
Answer: carboxylase
Flashcard 139: PIGA gene mutation affects all cells that express _____-linked proteins
Answer: GPI
Flashcard 140: Most sensitive and accurate test in diagnosing Wilson's disease is increased _____ content
Answer: hepatic copper
Flashcard 141: Hawkinsinuria occurs due to missense mutations in gene encoding which enzyme?_____
Answer: 4-Hydroxyphenylpyruvate dioxygenase (4-HPPD)
Flashcard 142: A mitochondrially inherited disease manifests if a minimum number of copies of mutant mtDNA are present in the mitochondria that can lead to oxidative dysfunction, called the _____ effect
Answer: threshold
Flashcard 143: Primary hyperoxaluria is a defect in the metabolism of _____.
Answer: glycine (amino-acid)
Flashcard 144: The most common variant of G6PD deficiency is _____
Answer: G6PD B
Flashcard 145: X-linked adrenal hypoplasia is due to mutation of _____ gene on Xp21
Answer: DAX1
Flashcard 146: Type _____ Niemann Pick disease presents with neurologic involvement
Answer: A
Flashcard 147: Type II Tyrosinemia is also called _____ type
Answer: Oculocutaneous
Flashcard 148: Canavan disease is an autosomal _____ disorder
Answer: recessive
Flashcard 149: Hyperammonemia type 2 occurs due to deficiency of the enzyme _____
Answer: ornithine transcarbamylase
Flashcard 150: LHON is related to a mitochondrial DNA mutation, most frequently at the _____ position
Answer: 11778
Flashcard 151: Congenital X-linked nephrogenic diabetes insipidus (NDI) results from inactivating mutations of which gene?_____
Answer: Vasopressin V2 receptor
Flashcard 152: Rhizomelic chondrodysplasia punctata, is a disorder of peroxisomes characterized by defects in the peroxin (PEX) family of genes - _____
Answer: PEX7
Flashcard 153: _____ deficiency is the most common inborn error of folate metabolism
Answer: Methylenetetrahydrofolate (MTHFR)
Flashcard 154: Which adrenal enzymes are deficient in Antley-Bixler syndrome?_____
Answer: 17-hydroxylase and 21-hydroxylase
Flashcard 155: Hemophilia A and B mostly affect males, but rarely can affect females due to _____
Answer: unfavourable lyonization
Flashcard 156: What kind of odour is seen in Trimethylaminuria?_____
Answer: Rotting fish
Flashcard 157: Several genes have been implicated in congenital glaucoma, prominently _____.
Answer: CYP1B1
Flashcard 158: What is the mode of inheritence of Segawa syndrome?_____
Answer: Autosomal dominant
Flashcard 159: Under Wood's lamp examination, urine, feces and blister fluid of porphyria show a _____ fluorescence
Answer: red/pink
Flashcard 160: Lack of a specific lysosomal hydrolase for glycoproteins will lead to what disease?_____
Answer: Oligosaccharidoses
Flashcard 161: CADASIL is caused by mutations in the _____ gene, which lead to the misfolding of the extracellular domain of the receptor, preferentially expressed in vascular smooth muscle
Answer: NOTCH3
Flashcard 162: Transient tyrosinemia of the newborn is seen in premature infants due to the immaturity of _____ enzyme
Answer: 4-HPPD
Flashcard 163: Stargardt's disease is caused by a mutation on an _____ gene.
Answer: adenosine triphosphate-binding cassette (ABCA4)
Flashcard 164: Calcium pyrophosphate crystal deposition disease is caused by germline mutations in the _____ transport channel
Answer: pyrophosphate
Flashcard 165: What is the mode of inheritence of ALA-Dehydratase porphyria?_____
Answer: Autosomal recessive
Flashcard 166: CNS damage in patients with phenylketonuria (PKU) is due to increased levels of _____
Answer: phenylalanine
Flashcard 167: Wolman disease is due to deficiency of the enzyme _____
Answer: acid lipase
Flashcard 168: Argininosuccinic aciduria is due to argininosuccinate _____ deficiency.
Answer: lyase
Flashcard 169: Porphyria cutanea tarda is characterised by increased _____ in the urine
Answer: uroporphyrin
Flashcard 170: The most common inborn error of methionine metabolism is _____
Answer: classical homocystinuria
Flashcard 171: A rare variant genotype of 1-antitrypsin deficiency with no detectable serum alpha-1 antitrypsin is known as _____
Answer: Pi-null
Flashcard 172: The difference between clinical presentation of Cori's disease vs Her's disease is that _____ disease will present with growth retardation
Answer: Cori's
Flashcard 173: Germline mutation in polycythemia paraganglioma syndrome is gain of function mutation seen in _____ gene.
Answer: EPAS1
Flashcard 174: An assay for plasma _____ concentration is done for the diagnosis of Hanhart syndrome
Answer: tyrosine
Flashcard 175: The gene for atopy is located on chromosome _____
Answer: 5
Flashcard 176: In both sporadic and familial pseudogout, there is germline mutations in the _____ gene
Answer: ANKH
Flashcard 177: Diagnosis of Hartnup's disease is via detection of increased excretion of indole compounds by _____ test
Answer: Obermeyer
Flashcard 178: What enzyme deficiency is seen in Farber's disease?_____
Answer: Ceramidase
Flashcard 179: Trichorrhexis nodosa and longitudinal breaks are seen in _____
Answer: Argininosuccinic aciduria (urea cycle disorder)
Flashcard 180: Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis
Answer: pancreatic
Flashcard 181: In Canavan disease, there is excessive excretion of _____ in the urine
Answer: acetylaspartic acid
Flashcard 182: A point mutation of the mitochondrial _____ gene leads to NARP syndrome
Answer: ATPase-6
Flashcard 183: In Hartnup's disease, there is deficiency of _____ protein in the intestine/ renal tubules or both
Answer: B0AT1
Flashcard 184: Which sphingolipidosis is associated with the development of vortex keratopathy?_____
Answer: Fabry disease
Flashcard 185: Which protein mutation is associated with Dubin-Johnson syndrome?_____
Answer: MRP-2/MDR-2
Flashcard 186: How is the diagnosis of HGPRT deficiency made?_____
Answer: measuring enzyme activity in erythrocyte
Flashcard 187: Phenylalanine levels are _____ in a patient of Segawa syndrome
Answer: normal
Flashcard 188: What is the most common type of Mucopolysaccharidosis?_____
Answer: Sanfilippo syndrome
Flashcard 189: Kyphoscoliosis is seen in EDS type _____ due to deficiency of enzyme lysyl hydroxylase-1
Answer: VI
Flashcard 190: Segawa syndrome is due to the defective _____ enzyme required for BH4 synthesis
Answer: GTP cyclohydrolase I
Flashcard 191: MEN 4 is due to mutations of _____ gene
Answer: CDKN1B
Flashcard 192: What is the inheritence pattern of Brunner's syndrome?_____
Answer: X-linked recessive
Flashcard 193: Presenilin 1 & 2 code for _____, which leads to production of A amyloid and its deposition in Alzheimer's disease
Answer: -Secretase (enzyme)
Flashcard 194: The ratio of BH4 loading test 2nd or 3rd-hour post-load value with urine _____ level has high sensitivity and specificity, for diagnosing Segawa syndrome
Answer: neopterin
Flashcard 195: Which gene is mutated in congenital cataract?_____
Answer: Crystallin
Flashcard 196: _____ levels of coproporphyrin in urine is seen in Rotor syndrome
Answer: Increased
Flashcard 197: _____ paradox states that risk of expressing mental retardation in fragile X syndrome increases in later generations
Answer: Sherman's
Flashcard 198: The mutations contributing to Menieres disease are found in the short arm of chromosome _____.
Answer: 6
Flashcard 199: There is impaired synthesis, processing, or ligand binding of _____ in patients of Imerslund-Grasbeck syndrome
Answer: cubilin
Flashcard 200: _____ syndrome is characterized by a partial deficiency of HGPRT and has no neurological complications
Answer: Kelley-Seegmiller
Flashcard 201: _____ is characterised by mutation in genes _____ and _____.
Answer: Sitosterolemia; ABCG5; ABCG8
Flashcard 202: Fabry s disease is inherited as _____ disorder.
Answer: X-linked recessive
Flashcard 203: _____ porphyria is associated with increased levels of uroporphyrin 1.
Answer: Congenital erythropoietic
Flashcard 204: _____ is characterised by mutation in genes _____ and _____.
Answer: Sitosterolemia; ABCG5; ABCG8
Flashcard 205: Fabry disease results in excessive intracellular accumulation of _____ceramide.
Answer: globotriaosyl
Flashcard 206: _____ syndrome/MPS _____ is caused by the deficiency of _____.
Answer: Maroteaux Lamy; VI; N -Acetylgalactosamine-�-4-sulfate sulfatase
Flashcard 207: HHH syndrome is caused due to the deficiency of the ornithine _____.
Answer: transporter
Flashcard 208: MELAS is due to defects in mitochondrial proteins like ETC complex _____ or complex _____.
Answer: I; IV
Flashcard 209: A _____ syndrome is a rare inherited absence of peroxisomes (not a mitochondrial disorder).
Answer: cerebrohepatorenal
Keywords: Genetic Disorders and Biochemical Pathology flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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Single Gene Disorders
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Biochemical Diagnosis of Genetic Disorders
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Inborn Errors of Metabolism
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Lysosomal Storage Diseases
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Glycogen Storage Diseases
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Disorders of Lipoprotein Metabolism
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Disorders of Purine and Pyrimidine Metabolism
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Hemoglobinopathies
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Porphyrias
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Biochemical Markers for Disease Diagnosis
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Newborn Screening for Genetic Disorders
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Enzyme Replacement Therapy
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