MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (MC1DN10)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (MC1DN10)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFAF2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618233

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (MC1DN10)
Synonym	NDUFAF2
OMIM	618233 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
Gene locus	5q12.1
ICD
Summary	very rare autosomal recessive mutation in the NDUFAF2 gene
Laboratory findings	L-Lactic acid inc (serum) L-Lactic acid inc (cerebrospinal fluid)
Symptoms	apnea ataxia developmental delay dysphagia early death encephalopathy feeding difficulties, poor feeding hypotonia leukoencephalopathy MRI, brain, abnormalities [-] nystagmus onset, childhood onset, infancy optic atrophy respiratory insufficiency seizures white matter changes, abnormalities