Tyrosinase
TYR
Hypopigmentation of skin/hair/eyes, photophobia, nystagmus, high skin cancer risk
Metabolic disorders
Inborn errors and acquired disorders mapped to the pathway and enzyme they affect.
Phenylalanine hydroxylase (or BH4 synthesis/recycling)
PAH / PTS / QDPR
Intellectual disability, musty odour, hypopigmentation, eczema, seizures
Acid alpha-glucosidase
GAA
Cardiomegaly, hypotonia, early death in infantile form
OCTN2 carnitine transporter
SLC22A5
Cardiomyopathy, hypotonia, hypoketotic hypoglycaemia
Propionyl-CoA carboxylase
PCCA / PCCB
Ketoacidosis, hyperammonaemia, vomiting, hypotonia
Pyruvate carboxylase
Lactic acidosis, hypoglycaemia, neurological disease
Pyruvate kinase
Chronic non-spherocytic haemolytic anaemia; right-shifted O2 curve
ABCA1 cholesterol efflux transporter
ABCA1
Near-absent HDL, orange tonsils, hepatosplenomegaly, neuropathy
Phosphofructokinase-1
Exercise intolerance with haemolysis; no second wind
beta-Hexosaminidase A
Cherry-red macula, hyperacusis/startle, progressive neurodegeneration; NO hepatosplenomegaly
Fumarylacetoacetate hydrolase
FAH
Liver failure, renal Fanconi syndrome, hepatocellular carcinoma, cabbage-like odour
Glucose-6-phosphatase
G6PC / SLC37A4 Gluconeogenesis
Severe fasting hypoglycaemia, lactic acidosis, hyperuricaemia, hyperlipidaemia, doll-like facies, hepatomegaly
Peroxisome biogenesis (peroxin) proteins
PEX genes
Hypotonia, seizures, craniofacial dysmorphism, hepatomegaly, early death