MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 (MC1DN7)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 (MC1DN7)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFV2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618229

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondria

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 (MC1DN7)
Synonym	NDUFV2
OMIM	618229 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondria
Gene locus	18p11.22
ICD
Summary	very rare autosomal recessive mutation in the NDUFV2 gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic cerebral atrophy developmental regression early death encephalopathy failure to thrive hypertonia, spasticity hypotonia lactic acidosis microcephaly (<2 SD for age) nystagmus onset, infancy optic atrophy psychomotor retardation seizures