MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (MC1DN25)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (MC1DN25)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFB3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618246

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (MC1DN25)
Synonym	NDUFB3
OMIM	618246 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3
Gene locus	2q33.1
ICD
Summary	very rare autosomal recessive mutation in the NDUFB3 gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	developmental delay early death encephalopathy failure to thrive feeding difficulties, poor feeding hypotonia intrauterine growth retardation lactic acidosis myopathy onset, fetus onset, infancy onset, neonatal prematurity, premature delivery respiratory insufficiency