Inborn Errors of Metabolism — Flashcards

Flashcard 1: Propionic acidemia presents with poor feeding, _____, hypotonia, anion gap metabolic acidosis, hepatomegaly and seizures

Answer: vomiting

Flashcard 2: Pearson syndrome is a mitochondrial inheritance disorder characterized by _____ insufficiency, pancytopenia, and lactic acidosis.

Answer: pancreatic

Flashcard 3: _____ disease is also known as infantile cortical hyperostosis.

Answer: Caffey s

Flashcard 4: A patient with Alagille syndrome may have renal dysplasia, glomerular _____ or renal tubular acidosis

Answer: mesangiolipidosis

Flashcard 5: 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 6: Characteristic clinical findings in **Phenylketonuria** include a _____ odor, hypopigmentation (fair skin/blue eyes), and intellectual disability.

Answer: musty or mousy

Flashcard 7: Zellweger Syndrome is an _____ leukodystrophy caused by defective peroxisome biogenesis

Answer: autosomal recessive

Flashcard 8: The majority of cases of _____ syndrome are caused by de novo mutations in meCP2

Answer: Rett

Flashcard 9: Type II tyrosinemia will present with features such as _____ and palmoplantar keratoderma/plaques

Answer: corneal erosions

Flashcard 10: The abnormality of _____ syndrome is arterio-hepatic dysplasia

Answer: Alagille