Inborn Errors of Metabolism — Flashcards

Flashcard 1: Type _____ Tyrosinemia is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (4-HPPD).

Answer: III

Extra: Tyrosinemia Type III is the rarest form of tyrosinemia. It is caused by mutations in the HPD gene. Note: **Transient Tyrosinemia of the Newborn** is a separate, common, and usually benign condition caused by the immaturity of the same enzyme (4-HPPD) or Vitamin C deficiency. It is more frequently referred to as "neonatal tyrosinemia" than the genetic Type III disorder.

Flashcard 2: Lack of a specific lysosomal hydrolase for glycoproteins will lead to what disease?_____

Answer: Oligosaccharidoses

Flashcard 3: Fabry disease results in excessive intracellular accumulation of _____ceramide.

Answer: globotriaosyl

Flashcard 4: Deficiency of the enzyme _____ causes phenylketonuria (PKU)

Answer: phenylalanine hydroxylase

Flashcard 5: Treatment of Von Gierke disease includes frequent oral _____ or cornstarch between meals

Answer: glucose

Flashcard 6: Pearson syndrome is a mitochondrial inheritance disorder characterized by _____ insufficiency, pancytopenia, and lactic acidosis.

Answer: pancreatic

Flashcard 7: Primary hyperoxaluria is a defect in the metabolism of _____.

Answer: glycine (amino-acid)

Flashcard 8: Maple syrup urine disease causes increased _____ in the blood, especially those of leucine

Answer: α-ketoacids

Flashcard 9: A _____ syndrome is a rare inherited absence of peroxisomes (not a mitochondrial disorder).

Answer: cerebrohepatorenal

Flashcard 10: Which epileptic syndrome has been associated with mutations in genes: ? _____

Answer: Juvenile myoclonic epilepsy