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Gene: NDUFA1

Green List (high evidence)

OMIM: Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders (McFarland et al., 2004; Kirby et al., 2004). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (see 256000), Leber hereditary optic neuropathy (535000), and some forms of Parkinson disease (see 556500) (Loeffen et al., 2000; Pitkanen et al., 1996; Robinson, 1998).

Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 has onset in the first year of life, variable severity, and death in early childhood may occur

Created: 11 Oct 2024, 4:41 a.m. | Last Modified: 11 Oct 2024, 4:41 a.m.

Panel Version: 1.390

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mitochondrial complex I deficiency, nuclear type 12 MIM#301020