mitochondrial trifunctional protein deficiency 1

A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.The mutation affects enzyme activity

A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.The mutation affects enzyme activity due to a deficiency in all three catalytic activities of the mitochondrial trifunctional protein.

Signs and symptoms

• Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts
• Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts
• Elevated circulating acylcarnitine concentration
• Feeding difficulties
• Elevated circulating creatine kinase activity
• Hypotonia
• Peripheral neuropathy
• Areflexia
• Lactic acidosis
• Dilated cardiomyopathy

Also known as: MTPD1