Genetic and Metabolic Disorders — Flashcards

What is the most common cause of genetic mental retardation?

Characteristic clinical findings in Phenylketonuria: No answer _____

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency may present in infancy or early childhood with _____, hyperammonemia, lethargy, seizures, coma, and liver dysfunction

Homocystinuria typically presents with subluxation of the lenses _____ and inward (direction)

Zellweger Syndrome is an _____ leukodystrophy caused by defective peroxisome biogenesis

Hint: inheritance

_____ syndrome is due to a mutation in the WASp gene

The abnormality of _____ syndrome is arterio-hepatic dysplasia

Type II tyrosinemia will present with features such as _____ and palmoplantar keratoderma/plaques

The majority of cases of _____ syndrome are caused by de novo mutations in meCP2

Van der Hoeve syndrome consist of the triad of _____, Otosclerosis and Blue sclera