COENZYME Q10 DEFICIENCY, PRIMARY, 5 (COQ10D5)

Question 1

What is  COENZYME Q10 DEFICIENCY, PRIMARY, 5 (COQ10D5)?

Accepted Answer

rare
autosomal recessive
mutation in the COQ9 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Enzephalopathie mit hypertropher Kardiomyopathie und renal-tubulärer Störung (Q-10-Mangel 5)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614654

Question 4

Which enzymes are involved?

Accepted Answer

Ubiquinone biosynthesis protein COQ9, mitochondrial

Disease	COENZYME Q10 DEFICIENCY, PRIMARY, 5 (COQ10D5)
OMIM	614654 OMIM = Online Mendelian Inheritance of Men
Orphanet	319678
Protein (UniProt)	Ubiquinone biosynthesis protein COQ9, mitochondrial
Gene locus	16q21
ICD	E88.8
Summary	rare autosomal recessive mutation in the COQ9 gene
Laboratory findings	Alanine inc (serum) Coenzyme Q10, Ubiquinone dec (muscle) L-Lactic acid inc (plasma)
Symptoms	anemia bradycardia cardiomyopathy cerebellar atrophy or hypoplasia cerebral atrophy developmental delay dystonia early death encephalopathy epilepsy feeding difficulties, poor feeding hyperreflexia hypothermia hypotonia intrauterine growth retardation lactic acidosis microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, neonatal psychomotor regression renal dysfunction, renal defects respiratory insufficiency seizures tubulopathy