Type: Metabolic
Acute intermittent porphyria
A defect of haem biosynthesis causing acute attacks; treated acutely with hemin and prophylactically with RNAi therapy.
Methylmalonic acidemia
Organic acidemia with metabolic acidosis, hyperammonemia and risk of metabolic stroke.
Alkaptonuria
Homogentisic acid accumulation causing dark urine, ochronosis and degenerative arthritis.
Glycogen storage disease type I
Glucose-6-phosphatase deficiency with severe fasting hypoglycemia, hepatomegaly and lactic acidosis.
Galactosemia
An inborn error of galactose metabolism detected on newborn screening; lifelong galactose restriction prevents acute crises.
Maple syrup urine disease
An inborn error managed chiefly by strict dietary control, with emergency protocols to prevent crises.
Mitochondrial disease (MELAS)
Disorders of oxidative phosphorylation affecting high-energy tissues (brain, muscle, heart).
Mucopolysaccharidosis type I
Lysosomal storage from alpha-L-iduronidase deficiency with coarse features, organomegaly and skeletal dysplasia.