Inborn Errors of Metabolism — Flashcards

Type _____ Tyrosinemia is also called Neonatal tyrosinemia and is due to deficiency of enzyme 4-hydroxyphenylpyruvate dioxygenase (4-HPPD)

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

Fabry disease results in excessive intracellular accumulation of _____ceramide.

Deficiency of the enzyme _____ causes phenylketonuria (PKU)

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

Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis

Primary hyperoxaluria is a defect in the metabolism of _____.

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

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

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