| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (COXPD40) | |
| QRSL1 | |
|
618835
OMIM = Online Mendelian Inheritance of Men | |
|
570491 | |
| --- | |
very rare autosomal recessive mutation in the QRSL1 gene | |
| Laboratory findings | Alanine inc (plasma) Creatine kinase inc (serum) Glutamine inc (plasma) L-Lactic acid inc (urine) Pyruvic acid inc (urine) Transaminases (ASAT/ALAT) inc (serum) |
| Symptoms | anemia ascites cardiomyopathy cardiomyopathy, hypertrophic cerebral atrophy Coagulopathy/Coagulation factors developmental regression early death encephalopathy failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hearing defect, deafness hepatomegaly (large liver) hydrops fetalis hypoglycemia hypotonia ketosis, ketoacidosis lactic acidosis Leigh syndrome myelination, incomplete, hypomyelination onset, fetus onset, neonatal prematurity, premature delivery respiratory insufficiency |