Genetic Disorders and Biochemical Pathology — Flashcards

Fabry disease results in excessive intracellular accumulation of _____ceramide.

Fabry s disease is inherited as _____ disorder.

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

_____ is characterised by mutation in genes _____ and _____.

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

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

_____ syndrome/MPS _____ is caused by the deficiency of _____.

_____ is characterised by mutation in genes _____ and _____.

_____ porphyria is associated with increased levels of uroporphyrin 1.