Disorders of Amino Acid Metabolism — Flashcards

Flashcard 1: Imerslund-Grasbeck syndrome may present as non-specific _____ with normal renal function

Answer: proteinuria

Flashcard 2: Triangular facies, relative macrocephaly, and 5th finger clinodactyly are indicative of which syndrome?

Answer: Russell-Silver syndrome

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: _____ syndrome is a combination of: 1. Wilms tumor 2. Macroglossia 3. Muscular hemihypertrophy (or hyperplasia) 4. Organomegaly

Answer: Beckwith-Wiedemann

Flashcard 5: Is irritability and crying an inherent feature of inborn errors of metabolism?_____

Answer: No

Flashcard 6: _____ may lead to Caudal regression syndrome in infants, which ranges from anal atresia to sirenomelia

Answer: Maternal diabetes

Flashcard 7: A patient with Alagille syndrome may have renal dysplasia, glomerular _____ or renal tubular acidosis

Answer: mesangiolipidosis

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