MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 (MC1DN8)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 (MC1DN8)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFS3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618230

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 (MC1DN8)
Synonym	NDUFS3
OMIM	618230 OMIM = Online Mendelian Inheritance of Men
Orphanet	255241
Protein (UniProt)	NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
Gene locus	11p11.2
ICD	G31.8
Summary	very rare autosomal recessive mutation in the NDUFS3 gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	dysphagia dystonia encephalopathy hypotonia lactic acidosis onset, infancy onset, neonatal pancreatitis respiratory insufficiency skoliosis, kyphoskoliosis white matter changes, abnormalities