| MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (MOCODA) | |
| SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF | |
|
252150
OMIM = Online Mendelian Inheritance of Men | |
|
833 | |
| Molybdenum cofactor biosynthesis protein 1 | |
| rare autosomal recessive mutation in the MOCS1 gene | |
| Laboratory findings | S-Sulfocysteine inc (urine) Urothione dec (urine) Xanthine inc (urine) alpha-Aminoadipic semialdehyde inc (urine) alpha-Aminoadipic semialdehyde inc (urine) Cystine inc (urine) Cystine dec (plasma) Homocysteine dec (plasma) Hypoxanthine inc (urine) S-Sulfocysteine inc (plasma) Sulfite inc (urine) Sulfite oxidase dec (fibroblasts) Taurine inc (plasma) Taurine inc (urine) Uric acid dec (serum) Uric acid dec (urine) Xanthine dehydrogenase dec (fibroblasts) |
| Symptoms | live threatening illness altered consciousness, consciousness disturbance Amino acids, plasma Amino acids, urine bleeding tendencies, hemorrhages cardiomyopathy, hypertrophic cerebral atrophy dislocated lens (ectopia lentis) dysmorphism early death EEG abnormalities [-] encephalopathy enophthalmus feeding difficulties, poor feeding growth retardation, poor growth hypotonia mental retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] nystagmus onset, childhood onset, infancy onset, neonatal opisthotonus seizures seizures, tonic clonic spastic diplegia/quadriplegia/tetraplegia vomiting |