Disorders of Amino Acid Metabolism — Flashcards

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

Triangular facies, microcephaly and 5th finger clinodactyly is indicative of _____ syndrome.*ABCDEF?

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

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

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

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

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

What is the most common cause of genetic mental retardation?

Characteristic clinical findings in Phenylketonuria: No answer _____

The abnormality of _____ syndrome is arterio-hepatic dysplasia