MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (MC1DN14)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (MC1DN14)?

Accepted Answer

rare

autosomal recessiv

mutation in the NDUFA11 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618236

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (MC1DN14)
Synonym	NDUFA11
OMIM	618236 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11
Gene locus	19p13p3
ICD	G71.3
Summary	rare autosomal recessiv mutation in the NDUFA11 gene
Laboratory findings	L-Lactic acid inc (blood)
Symptoms	apnea cardiomyopathy cardiomyopathy, hypertrophic developmental delay early death encephalopathy hypotonia lactic acidosis metabolic acidosis microcephaly (<2 SD for age) myopathy nystagmus onset, childhood onset, infancy optic atrophy seizures