MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 (MC1DN29)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 (MC1DN29)?

Accepted Answer

very rare

autosomal recessive

mutation in the TMEM126B gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618250

Question 3

Which enzymes are involved?

Accepted Answer

Complex I assembly factor TMEM126B, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 (MC1DN29)
Synonym	TMEM126B
OMIM	618250 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	Complex I assembly factor TMEM126B, mitochondrial
Gene locus	11q14.1
ICD
Summary	very rare autosomal recessive mutation in the TMEM126B gene
Laboratory findings	Alanine inc (plasma) L-Lactic acid inc (serum)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic congenital heart defect defect of walking, running, rising or climbing exercise intolerance failure to thrive growth retardation, poor growth muscle weakness onset, adolescent onset, childhood pain, muscle renal failure, acute/chronic