MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 (MC1DN6)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 (MC1DN6)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFS2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618228

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 (MC1DN6)
Synonym	NDUFS2
OMIM	618228 OMIM = Online Mendelian Inheritance of Men
Orphanet	70474
Protein (UniProt)	NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
Gene locus	1q23.3
ICD	G31.8
Summary	very rare autosomal recessive mutation in the NDUFS2 gene
Laboratory findings	L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (serum)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic cerebral atrophy developmental regression early death failure to thrive hyperreflexia hypotonia lactic acidosis lethargy, drowsiness, apathy onset, infancy optic atrophy pyramidal signs respiratory insufficiency