MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 (MC1DN4)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 (MC1DN4)?

Accepted Answer

very rare

autosomal recessvie

mutation in the NDUFV1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618225

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 (MC1DN4)
Synonym	NDUFV1
OMIM	618225 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
Gene locus	11q13.2
ICD	G71.3
Summary	very rare autosomal recessvie mutation in the NDUFV1 gene
Laboratory findings	L-Lactic acid inc (serum) L-Lactic acid inc (cerebrospinal fluid)
Symptoms	apnea ataxia cerebral atrophy developmental delay early death hypertonia, spasticity hypotonia lactic acidosis lethargy, drowsiness, apathy metabolic acidosis onset, childhood onset, infancy ophthalmoplegia ptosis (drooping eyelid) seizures vomiting