Disorders of Carbohydrate Metabolism — Flashcards

Flashcard 1: Patients with Alagille syndrome usually present with a _____ stature and a failure to thrive

Answer: short

Flashcard 2: What is the mode of inheritence of Imerslund-Grasbeck syndrome?_____

Answer: Autosomal recessive

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: Is irritability and crying an inherent feature of inborn errors of metabolism?_____

Answer: No

Flashcard 5: What is the mode of diagnosis of Duchenne muscular dystrophy?_____

Answer: PCR

Flashcard 6: Pearson syndrome is a mitochondrial inheritance disorder characterized by _____ insufficiency, pancytopenia, and lactic acidosis.

Answer: pancreatic

Flashcard 7: Which mucopolysaccharidosis is characterised by absence of hepatosplenomegaly and preservation of intelligence?_____

Answer: Morquio syndrome (MPS IV)

Flashcard 8: _____ disease is also known as infantile cortical hyperostosis.

Answer: Caffey s

Flashcard 9: 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 10: Characteristic clinical findings in **Phenylketonuria** include a _____ odor, hypopigmentation (fair skin/blue eyes), and intellectual disability.

Answer: musty or mousy