MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (MC1DN18)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (MC1DN18)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFAF3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618240

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (MC1DN18)
Synonym	NDUFAF3
OMIM	618240 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
Gene locus	3p21.31
ICD
Summary	very rare autosomal recessive mutation in the NDUFAF3 gene
Laboratory findings	L-Lactic acid inc (serum) L-Lactic acid inc (cerebrospinal fluid)
Symptoms	abnormal movement developmental delay early death feeding difficulties, poor feeding hydronephrosis hyperreflexia hypertonia, spasticity hypotonia lactic acidosis macrocephaly (large calvaria, >2 SD for age) myoclonus onset, neonatal optic atrophy respiratory insufficiency seizures