MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (MC1DN11)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (MC1DN11)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFAF1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618234

Question 3

Which enzymes are involved?

Accepted Answer

Complex I intermediate-associated protein 30, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (MC1DN11)
Synonym	NDUFAF1
OMIM	618234 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	Complex I intermediate-associated protein 30, mitochondrial
Gene locus	15q15.1
ICD	G71.3
Summary	very rare autosomal recessive mutation in the NDUFAF1 gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	blindness, visual loss, visual impairment cardiomyopathy cardiomyopathy, hypertrophic developmental delay encephalopathy failure to thrive heart failure, cardiac failure hepatomegaly (large liver) intellectual disability/intellectual developmental disorder lactic acidosis leukodystrophy myopathy onset, infancy osteoporosis retinopathy skoliosis, kyphoskoliosis