Genetic Disorders and Biochemical Pathology — Flashcards

_____ porphyria is associated with increased levels of uroporphyrin 1.

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

_____ syndrome is characterized by a partial deficiency of HGPRT and has no neurological complications

_____ is characterised by mutation in genes _____ and _____.

Fabry s disease is inherited as _____ disorder.

MELAS is due to defects in mitochondrial proteins like ETC complex _____ or complex _____.

_____ is characterised by mutation in genes _____ and _____.

HHH syndrome is caused due to the deficiency of the ornithine _____.

Fabry disease results in excessive intracellular accumulation of _____ceramide.