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sulfocysteinuria; isolated sulfite oxidase deficiency
Pathology:
- multicystic leukoencephalopathy with brain atrophy
Genetics:
- associated with defects in SUOX
Clinical manifestations:
- seizures
- death at an early age
Related
molybdenum cofactor deficiency
sulfite oxidase, mitochondrial (SUOX)
General
inborn error of metabolism
Database Correlations
OMIM 272300
References
OMIM :accession 272300