glycogen storage disease type-VIII

Genetics: - caused by defects in PHKA2 gene Clinical manifestations: 1) hepatomegaly, growth retardation, muscle weakness 2) clinical abnormalities resolve & most adults are asymptomatic Laboratory: 1) increased serum AST & serum ALT 2) lipid panel a) hypercholesterolemia b) hypertriglyceridemia 3) serum ketones: fasting hyperketosis

Properties

DEFICIENT-PROTEIN: adenylate kinase-1 COMPARTMENT: cytoplasm MOTIF: acetylation site SITE: 1-1 EFFECTOR-BOUND: acetyl ATP-binding site NAME: ATP-binding site SITE: 15-23 histidine residue {H36} aspartate residue {D93}

References

OMIM :accession 306000