| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 (MC1DN5) | |
| NDUFS1 | |
|
618226
OMIM = Online Mendelian Inheritance of Men | |
|
25609 | |
| NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial | |
very rare autosomal recessive mutation in the NDUFS1 gene | |
| Laboratory findings | L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (serum) |
| Symptoms | apnea ataxia cerebral atrophy developmental delay developmental regression dysphagia dystonia early death failure to thrive hyperreflexia hypotonia intellectual disability/intellectual developmental disorder irritability lactic acidosis lethargy, drowsiness, apathy leukodystrophy leukoencephalopathy microcephaly (<2 SD for age) nystagmus onset, infancy ophthalmoplegia optic atrophy pyramidal signs respiratory insufficiency seizures speech development, delayed, abnormal strabismus vomiting white matter changes, abnormalities |