Conditions / Genetic
mitochondrial DNA depletion syndrome 6
info · Genetic
A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mut
A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23.
Signs and symptoms
- Peripheral axonal neuropathy
- Hearing impairment
- Mitochondrial depletion
- Hypertyrosinemia
- Gait imbalance
- Generalized hypotonia
- Constipation
- Incoordination
- Impaired distal proprioception
- Decreased activity of mitochondrial complex III
Also known as: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome; Navajo neurohepatopathy