| MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (MOCODB) | |
| MOLYBDENUM COFACTOR DEFICIENCY B | |
|
252160
OMIM = Online Mendelian Inheritance of Men | |
|
833 | |
| Molybdopterin synthase sulfur carrier subunit; Molybdopterin synthase catalytic subunit | |
| rare autosomal recessive mutation in the MOCS2 gene | |
| Laboratory findings | Hypoxanthine inc (urine) Pipecolic acid inc (cerebrospinal fluid) S-Sulfocysteine inc (urine) Urothione dec (urine) Trimethylamine inc (urine) alpha-Aminoadipic semialdehyde inc (cerebrospinal fluid) alpha-Aminoadipic semialdehyde inc (urine) Cystine dec (plasma) Homocysteine dec (plasma) S-Sulfocysteine inc (plasma) Sulfite inc (urine) Taurine inc (plasma) Taurine inc (urine) Uric acid dec (plasma) Xanthine inc (plasma) Xanthine inc (urine) |
| Symptoms | live threatening illness altered consciousness, consciousness disturbance apnea ataxia blindness, visual loss, visual impairment cerebral atrophy chorea or athetosis dislocated lens (ectopia lentis) dysmorphism dystonia feeding difficulties, poor feeding growth retardation, poor growth hyperekplexia hypotension hypotonia macrocephaly (large calvaria, >2 SD for age) microcephaly (<2 SD for age) myoclonus nystagmus onset, childhood onset, infancy onset, neonatal seizures seizures, tonic clonic spastic diplegia/quadriplegia/tetraplegia tremor or twitching urolithiasis, nephrolithiasis, kidney stones white matter changes, abnormalities |