Disorders of Lipid Metabolism — Flashcards

Flashcard 1: What is the mode of inheritence of Imerslund-Grasbeck syndrome?_____

Answer: Autosomal recessive

Flashcard 2: Achondroplasia is associated with _____cephaly.

Answer: macro

Flashcard 3: The type of screening done in a newborn to rule out metabolic disorders like phenylketonuria is _____ screening.

Answer: Prescriptive screening Prescriptive screening refers to the presumptive identification of unrecognized disease in an apparently healthy person to provide early treatment and improve the health outcome for that individual. Newborn screening for phenylketonuria (PKU) is a classic example because early dietary intervention prevents mental disability.

Flashcard 4: Alagille syndrome is associated with mutations in _____ gene in 90% of patients

Answer: JAG1

Flashcard 5: Pearson syndrome is a mitochondrial inheritance disorder characterized by _____ insufficiency, pancytopenia, and lactic acidosis.

Answer: pancreatic

Flashcard 6: Which mucopolysaccharidosis is characterised by absence of hepatosplenomegaly and preservation of intelligence?_____

Answer: Morquio syndrome (MPS IV)

Flashcard 7: _____ syndrome is associated with a WT1 gene mutation

Answer: Denys-Drash

Flashcard 8: What is the most common genetic cause of intellectual disability (mental retardation)?

Answer: Down syndrome (Trisomy 21)

Extra: - Most common **genetic/chromosomal** cause: Down syndrome. - Most common **inherited** cause: Fragile X syndrome.

Flashcard 9: Characteristic clinical findings in **Phenylketonuria** include a _____ odor, hypopigmentation (fair skin/blue eyes), and intellectual disability.

Answer: musty or mousy

Flashcard 10: The abnormality of _____ syndrome is arterio-hepatic dysplasia

Answer: Alagille