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

More general terms

• inborn error of metabolism

Additional terms

• molybdenum cofactor deficiency
• sulfite oxidase, mitochondrial (SUOX)

Database

• OMIM: https://mirror.omim.org/entry/272300