Genetic and Metabolic Disorders — Flashcards

What is the most common cause of genetic mental retardation?

Characteristic clinical findings in Phenylketonuria: No answer _____

Zellweger Syndrome is an _____ leukodystrophy caused by defective peroxisome biogenesis

Hint: inheritance

_____ syndrome is due to a mutation in the WASp gene

Hunter syndrome presents as a _____ (severity) form of Hurler syndrome with aggressive behavior

_____ syndrome is an autosomal dominant disorder which has features of piebaldism and sensorineural deafness

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

The abnormality of _____ syndrome is arterio-hepatic dysplasia

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

Systemic manifestations of Hallerman Streiff syndrome is _____ malformation, Hypoplastic mandible, Short stature and Skin atrophy