Metabolic disorders

Inborn errors and acquired disorders mapped to the pathway and enzyme they affect.

Porphobilinogen deaminase (HMBS)

HMBS

Abdominal pain, neuropathy, psychiatric signs, port-wine urine; NO photosensitivity; triggered by CYP inducers, fasting, alcohol

Familial hypercholesterolaemia AD

LDL receptor (or apoB-100, PCSK9 gain-of-function)

LDLR / APOB / PCSK9 Lipoprotein Metabolism (Exoge…

Tendon xanthomas, xanthelasma, corneal arcus, premature coronary disease

Showing all 2 disorders.