MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 (MC1DN9)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 (MC1DN9)?

Accepted Answer

rare

autosomal recessive

mutation in the NDUFS6 gen

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618232

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 (MC1DN9)
Synonym	NDUFS6
OMIM	618232 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
Gene locus	5p15.33
ICD	G71.3
Summary	rare autosomal recessive mutation in the NDUFS6 gen
Laboratory findings	L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (serum)
Symptoms	early death encephalopathy eye movements, abnormal feeding difficulties, poor feeding hypotonia lactic acidosis lethargy, drowsiness, apathy nystagmus onset, infancy onset, neonatal seizures