Genetic and Metabolic Disorders — Flashcards

The abnormality of _____ syndrome is arterio-hepatic dysplasia

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

Zellweger Syndrome is an _____ leukodystrophy caused by defective peroxisome biogenesis

Hint: inheritance

Rett syndrome symptoms usually become apparent between ages _____ to 4

The findings in **Patau syndrome** (Trisomy 13) may be remembered with the **5 Ps**: - Cleft _____ - HoloProsencephaly - Polydactyly - aPlasia cutis - Polycystic kidney disease

The characteristics of tuberous sclerosis may be remembered with the mnemonic "HAMARTOMAS": H: _____A: Angiofibromas (adenoma sebaceum)M: Mitral regurgitation A: Ash-leaf spots (hypopigmented macule)R: cardiac RhabdomyomaT: Tuberous sclerosisO: autosomal dOminantM: Mental retardation (intellectual disability)A: renal Angiomyolipoma S: Seizures, Shagreen patches

Classic galactosemia causes liver damage and renal damage, which manifests as _____, hepatomegaly, and a metabolic acidosis

_____ is a metabolic disorder characterized by a musty body odor

Galactokinase deficiency may present as failure to _____ or failure to develop a social smile

Holoprosencephaly is seen in _____ syndrome and fetal alcohol syndrome