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toes of a newborn with a rare genetic disorder

MoCD Type A overview

What is molybdenum cofactor deficiency (MoCD) Type A?

MoCD Type A is a rare genetic disorder that can cause seizures shortly after birth and in infancy1,2

MoCD Type A is part of a group of extremely rare conditions called sulfite intoxication disorders, in which toxic substances called sulfites build up in the brain1

Sulfite intoxication disorders include1:

Brain icon

Sulfite intoxication disorders include1:

  • MoCD Type A
  • MoCD Type B
  • MoCD Type C
  • Isolated sulfite oxidase deficiency (ISOD)

MoCD Type A can affect infants and children of any race, ethnicity, or sex3

multicolored infant line art

High sulfite levels in MoCD Type A are caused by changes in a gene called MOCS14-7

Changes in the gene MOCS1 affect the body’s ability to eliminate sulfites by interfering with the production of important compounds

DNA Strand

MOCS1

Two of these important compounds are cPMP and MoCo

cPMP and MoCo compound

cPMP/MoCo

Without these compounds, the body can’t make an important substance called sulfite oxidase, which would normally help eliminate sulfites

trash can

Ability to clear out sulfites (through sulfite oxidase)

brain

Interfering with this pathway results in the buildup of toxic compounds called sulfites, which can lead to multiple symptoms

A single urine test can be used to determine if sulfites are building up in the body.1,8

cPMP, cyclic pyranopterin monophosphate; MoCo, molybdenum cofactor.

caregiver holding the feet of a baby with seizures

Learn more about the signs and symptoms of MoCD Type A

Knowing about disorders that can cause seizures shortly after birth is the first step toward advocating for your baby.

What are the symptoms of MoCD Type A?

References: 1. Spiegel R, Schwahn BC, Squires L, Confer N. Molybdenum cofactor deficiency: A natural history. J Inherit Metab Dis. 2022;45(3):456-469. 2. Zaki MS, Selim L, El-Bassyouni HT, et al. Molybdenum cofactor and isolated sulphite oxidase deficiencies: clinical and molecular spectrum among Egyptian patients. Eur J Paediatr Neurol. 2016;20(5):714-722. 3. Misko A, Liang Y, Kohl JB, Eichler F. Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. Neurol Genet. 2020;6(4):1-10. 4. Durmaz MS, Özbakır B. Molybdenum cofactor deficiency: neuroimaging findings. Radiol Case Rep. 2018;13(3):592-595. 5. Mechler K, Mountford W, Hoffmann G, Ries M. Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. Genet Med. 2015;17:965–970. 6. Reiss J, Hahnewald R. Molybenum cofactor deficiency: mutations in GPHN, MOCS1, and MOCS2. Hum Mutat. 2011;32(1):10-18. 7. Schwarz G. Molybdenum cofactor and human disease. Curr Opin Chem Biol. 2016;31:179-187. 8. Veldman A, Santamaria-Araujo JA, Sollazzo S, et al. Successful treatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics. 2010;125(5):e1249-e1254.