mitochondrial trifunctional protein deficiency 2

info · Genetic

A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.

Signs and symptoms

Recurrent myoglobinuria
Seizure
Elevated circulating alanine aminotransferase concentration
Hypotension
Cerebral hemorrhage
Elevated circulating aspartate aminotransferase concentration
Increased circulating lactate concentration
Left ventricular dilatation
Tricuspid regurgitation
Elevated circulating NT-proBNP concentration

Also known as: MTPD2