Skip to content
Use your HSA or FSA funds

Condition report · Ophthalmological

Molybdenum Cofactor and Sulfite Oxidase Deficiency

These are rare inherited conditions in which the enzyme sulfite oxidase does not work, so toxic sulfite builds up and damages the brain. They usually start soon after birth with seizures, and can also cause dislocated lenses in the eye.

A condition report looks for rare variants known to cause the conditions it covers.

Included in Premium and Premium + AI

Premium adds $99 per kit for the first year.

Order with Premium

The 2 conditions we analyse

Molybdenum Cofactor Deficiency

Autosomal recessive

A condition caused by changes in both copies of MOCS1, MOCS2 or GPHN, which are needed to make the molybdenum cofactor used by sulfite oxidase and other enzymes.

What a diagnosis changes

Fosdenopterin is an approved treatment for type A (MOCS1) and works best when started very early; carrier status is relevant to family planning.

Genes analysed

Also known as

combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase; MOCOD

Includes 4 related subtypes ↓
  • sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
  • sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
  • sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2
  • sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
MONDO:0020480Orphanet 99732MedGen 75652

Isolated Sulfite Oxidase Deficiency

Autosomal recessive

A condition caused by changes in both copies of SUOX, the gene for sulfite oxidase itself.

What a diagnosis changes

Diagnosis allows supportive care and informs counselling for future pregnancies.

Genes analysed

Also known as

ISOD; sulfite oxidase deficiency; Sulfocysteinuria

MONDO:0010089OMIM 272300Orphanet 99731MedGen 78695

Other ophthalmological conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Premium adds $99 per kit for the first year.

Order with Premium