MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (MC1DN17)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (MC1DN17)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFAF6 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618239

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (MC1DN17)
Synonym	NDUFAF6
OMIM	618239 OMIM = Online Mendelian Inheritance of Men
Orphanet	255241
Protein (UniProt)	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
Gene locus	8q22.1
ICD	G31.8
Summary	very rare autosomal recessive mutation in the NDUFAF6 gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	ataxia developmental delay dysarthria dystonia gait disturbance hypotonia lactic acidosis MRI, brain, abnormalities [-] muscle atrophy onset, childhood onset, infancy scoliosis seizures white matter changes, abnormalities