Conditions / Genetic
nuclear type mitochondrial complex I deficiency 35
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3.
Signs and symptoms
- Elevated urinary 4-hydroxybutyric acid
- Pulmonary hypoplasia
- Nonimmune hydrops fetalis
- Pulmonary arterial hypertension
- Elevated lactate:pyruvate ratio
- Decreased activity of mitochondrial complex I
- Hyperprolinemia
- Lacticaciduria
- Cardiomyopathy
- Intrauterine growth retardation
Also known as: MC1DN35