| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (MMDS3) | |
|
615330
OMIM = Online Mendelian Inheritance of Men | |
|
363424 | |
| Putative transferase CAF17, mitochondrial | |
very rare autosomal recessive mutation in the IBA57 gene | |
| Laboratory findings | Glycine inc (serum) Glycine inc (cerebrospinal fluid) L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (serum) |
| Symptoms | arthrogryposis blindness, visual loss, visual impairment cerebral atrophy cognitive impairment encephalopathy feeding difficulties, poor feeding high arched palate hypotonia intrauterine growth retardation irritability lactic acidosis leukodystrophy metabolic acidosis microcephaly (<2 SD for age) nystagmus onset, fetus onset, neonatal optic atrophy periventricular white matter changes polyhydramnion (maternal) respiratory insufficiency seizures spastic diplegia/quadriplegia/tetraplegia |