COENZYME Q10 DEFICIENCY, PRIMARY, 7 (COQ10D7)

Question 1

What is  COENZYME Q10 DEFICIENCY, PRIMARY, 7 (COQ10D7)?

Accepted Answer

rare
autosomal recessive
mutation in the COQ4 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Neonatale Enzephalomyopathie-Kardiomyopathie-Atemnot-Syndrom (Q-10-Mangel 7)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616276

Question 4

Which enzymes are involved?

Accepted Answer

Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial

Disease	COENZYME Q10 DEFICIENCY, PRIMARY, 7 (COQ10D7)
OMIM	616276 OMIM = Online Mendelian Inheritance of Men
Orphanet	457185
Protein (UniProt)	Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial
Gene locus	9q34.11
ICD
Summary	rare autosomal recessive mutation in the COQ4 gene
Laboratory findings	2-Hydroxyglutaric acid (L) normal/inc (urine) Coenzyme Q10, Ubiquinone dec (muscle) L-Lactic acid inc (plasma)
Symptoms	ataxia basal ganglia, changes, lesions, calcifications (MRI, CT) bradycardia cardiac involvement, cardiac defects cardiomyopathy, hypertrophic cerebellar atrophy or hypoplasia dysarthria dystonia early death EEG abnormalities [-] encephalopathy epilepsy hypotonia intrauterine growth retardation lactic acidosis MRI, brain, abnormalities [-] neuropathy onset, neonatal psychomotor retardation respiratory insufficiency scoliosis seizures speech difficulties strokelike episodes swallowing difficulties