MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3?

Accepted Answer

very rare

autosomal recessvie

mutation in the NDUFS7 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618224

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3
Synonym	NDUFS7
OMIM	618224 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
Gene locus	19p13.3
ICD
Summary	very rare autosomal recessvie mutation in the NDUFS7 gene
Laboratory findings	L-Lactic acid inc (serum) L-Lactic acid inc (cerebrospinal fluid)
Symptoms	ataxia dysarthria dystonia early death encephalopathy extrapyramidal signs hepatomegaly (large liver) hyperreflexia hypotonia lactic acidosis lethargy, drowsiness, apathy metabolic acidosis onset, infancy pyramidal signs respiratory insufficiency seizures