MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 (MC1DN2)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 (MC1DN2)?

Accepted Answer

rare

autosomal recessive

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618222

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 (MC1DN2)
Synonym	NDUFS8
OMIM	618222 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
Gene locus	9q33.2
ICD
Summary	rare autosomal recessive
Laboratory findings	L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (serum)
Symptoms	apnea cardiomyopathy cardiomyopathy, hypertrophic defect of walking, running, rising or climbing developmental delay dysarthria dyskinesia dystonia feeding difficulties, poor feeding hyperreflexia hypotonia myopathy nystagmus onset, childhood onset, infancy ophthalmoplegia respiratory insufficiency seizures white matter changes, abnormalities