MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFAF8 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618776

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
Synonym	NDUFAF8
OMIM	618776 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus	17q25.3
ICD
Summary	very rare autosomal recessive mutation in the NDUFAF8 gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	anemia apnea developmental delay dysphagia early death EEG abnormalities [-] encephalopathy feeding difficulties, poor feeding hypotonia intrauterine growth retardation lactic acidosis metabolic acidosis onset, infancy optic atrophy respiratory insufficiency seizures