| COENZYME Q10 DEFICIENCY, PRIMARY, 1 (COQ10D1) | |
| COENZYME Q 10 DEFICIENCY; UBIQUINONE DEFICIENCY; COQ2 | |
|
607426
OMIM = Online Mendelian Inheritance of Men | |
|
255249 | |
| 4-hydroxybenzoate polyprenyltransferase, mitochondrial | |
| 2.5.1.39 | |
| rare autosomal recessive mutation in the COQ2 gene | |
| Laboratory findings | Albumin dec (serum) Coenzyme Q10, Ubiquinone dec (muscle) Creatine kinase inc (serum) Dicarboxylic acids inc (urine) L-Lactic acid inc (plasma) Myoglobin normal/inc (urine) Protein inc (urine) |
| Symptoms | renal failure, chronic anemia ataxia cardiomyopathy cardiomyopathy, hypertrophic cerebellar atrophy or hypoplasia cerebral atrophy developmental regression early death edema EEG abnormalities [-] encephalopathy epilepsy hearing defect, deafness lactic acidosis liver failure mental retardation muscle weakness myopathy nephrotic syndrome nystagmus onset, adulthood onset, childhood onset, infancy onset, neonatal pancytopenia proteinuria psychomotor regression renal failure, acute/chronic retinitis pigmentosa seizures strokelike episodes |