| MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (MOCODC) | |
| MOLYBDENUM COFACTOR DEFICIENCY C | |
|
615501
OMIM = Online Mendelian Inheritance of Men | |
|
308400 | |
| Gephyrin | |
| rare autosomal recessive mutation in the GPHN gene | |
| Laboratory findings | Urothione normal/inc (urine) Xanthine inc (urine) alpha-Aminoadipic semialdehyde inc (urine) alpha-Aminoadipic semialdehyde inc (cerebrospinal fluid) Cystine dec (plasma) Homocysteine dec (plasma) S-Sulfocysteine inc (urine) S-Sulfocysteine inc (plasma) Sulfite inc (urine) Taurine inc (plasma) Taurine inc (urine) Uric acid dec (urine) Xanthine inc (plasma) |
| Symptoms | live threatening illness altered consciousness, consciousness disturbance apnea cerebellar atrophy or hypoplasia cerebral atrophy developmental delay dislocated lens (ectopia lentis) dysmorphism early death feeding difficulties, poor feeding hyperekplexia hyperreflexia hypotension hypotonia microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, adolescent 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 |