COENZYME Q10 DEFICIENCY, PRIMARY, 8 (COQ10D8)

Question 1

What is  COENZYME Q10 DEFICIENCY, PRIMARY, 8 (COQ10D8)?

Accepted Answer

very rare
autosomal recessive
mutation in the COQ7 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Q-10-Mangel 8

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616733

Question 4

Which enzymes are involved?

Accepted Answer

5-demethoxyubiquinone hydroxylase, mitochondrial

Disease	COENZYME Q10 DEFICIENCY, PRIMARY, 8 (COQ10D8)
OMIM	616733 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	5-demethoxyubiquinone hydroxylase, mitochondrial
Gene locus	16p12.3
ICD
Summary	very rare autosomal recessive mutation in the COQ7 gene
Laboratory findings	Coenzyme Q10, Ubiquinone decreased (muscle) Fumaric acid inc (urine) L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (plasma) Malic acid inc (urine)
Symptoms	lactic acidosis blindness, visual loss, visual impairment cardiac involvement, cardiac defects contractures, joints developmental delay feeding difficulties, poor feeding growth retardation, poor growth hearing defect, deafness hypertension hypotonia intrauterine growth retardation learning disability muscle weakness oligohydramnion (maternal) onset, fetus onset, infancy onset, neonatal pulmonary hypertension pulmonary hypoplasia renal dysfunction, renal defects respiratory distress