MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1 (MC1DN1)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1 (MC1DN1)?

Accepted Answer

rare

autosomal recessive

X-linked dominant

mitochondrial

mutation in the NDUFS4 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Isolierter Atmungskettendefekt im Komplex I; NADH-CoQ-Reduktase Mangel, isolierter

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 252010

Question 4

Which enzymes are involved?

Accepted Answer

NADH:ubiquinone reductase (H+-translocating)

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1 (MC1DN1)
Synonym	NADH-COENZYME Q REDUCTASE DEFICIENCY; NDUFS4
OMIM	252010 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH:ubiquinone reductase (H+-translocating)
ExPASy	1.6.5.3
Gene locus	1q24.2; 2q33.1; 2q33.3; 3p21.31; 5q11.2; 5q12.1; 6q16.1; 11q13.2; 11q24.2; 14p11.2; 15q11.2; 18p11.22; 19p13.3; 20p12.1; Xq24
ICD	G71.3
Summary	rare autosomal recessive X-linked dominant mitochondrial mutation in the NDUFS4 gene
Laboratory findings	Alanine inc (serum) D-Glucose dec (plasma) L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid dec (plasma)
Symptoms	ataxia blindness, visual loss, visual impairment cardiomyopathy cardiomyopathy, dilated cardiomyopathy, hypertrophic cardiomyopathy, mixed type dystonia early death encephalopathy epilepsy failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hearing defect, deafness hypoglycemia hypotonia irritability leukodystrophy liver involvement or dysfunction macrocephaly (large calvaria, >2 SD for age) motor retardation myopathy nystagmus onset, infancy optic atrophy ptosis (drooping eyelid) pyramidal signs seizures strabismus tachypnea, hyperpnea, dyspnea, hyperventilation temperature instability vomiting