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toes of an infant with MoCD diagnosis

How will my baby’s doctors test for and diagnose MoCD Type A?

Diagnosing MoCD Type A can be difficult because the signs and symptoms of MoCD Type A overlap with other, more common disorders1

Although the symptoms of MoCD Type A may be seen on the first day of life, reaching the right diagnosis may take much longer without the right tests2

Other conditions your baby’s doctors may screen for to find the cause of seizures and other symptoms include1,3:

  • Hypoxic-ischemic encephalopathy (HIE)
  • Other sulfite intoxication disorders
  • Rare genetic conditions other than MoCD
caregiver watching over a baby in the NICU

The symptoms of MoCD are very similar to HIE, which is the most common cause of seizures shortly after birth1,4

HIE is the cause of 80% of all seizures in the first 2 days of life.4,5 The opportunity for an early diagnosis of MoCD Type A may be missed because of its rarity and the similarity of its symptoms to HIE.6

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If your baby is having seizures, ask your baby’s healthcare team to rule out sulfite intoxication; a urine test for sulfites can help determine if MoCD Type A is the cause.7,8

There are several steps your baby’s healthcare team may take to help find the right diagnosis2

clipboard used in the clinic

Evaluation of signs, symptoms, and family history2,7,9

brain with overlaid EEG

Brain tests to look for abnormalities such as an EEG or MRI7,9

blood drop representing different tests

Different tests on blood and/or urine7,9

DNA strand

Genetic testing2,7

EEG, electroencephalogram; MRI, magnetic resonance imaging.
An EEG is a test used to measure electrical activity in the brain.10 An MRI is a test that uses a large magnet and radio waves to create pictures of the brain.11

Genetic testing is the only way for doctors to confirm a diagnosis of MoCD Type A using rapid whole genome sequencing or a symptom-related gene panel9,12

  • If your child’s symptoms, brain tests, or tests looking at compounds in blood and/or urine suggest MoCD Type A, their doctors may begin treatment before receiving genetic testing results, which can take time.
  • Learn more about genetic testing and other tools your child’s healthcare team may use to diagnose MoCD Type A.

Consideration of MoCD at symptom onset may lead to earlier diagnosis and the opportunity to intervene7

MoCD Type A is a serious condition, with a typical life expectancy of 2 to 3 years without therapeutic intervention.7

Children with MoCD Type A who survive past infancy without treatment usually experience long-term complications, including not meeting developmental milestones.7.9

computer with magnifying glass

If your baby is experiencing seizures, one urine test could be the key to ruling out or diagnosing MoCD Type A7,8

Download this guide to help you talk to your child’s healthcare team about sulfite testing

Download conversation guide
feet of a baby with symptoms of MoCD

Where can I find more information?

Bringing up MoCD Type A to your baby’s healthcare team could help reach an earlier diagnosis.

Learn more about MoCD Type A

References: 1. Vijayakumar K, Gunny R, Grunewald S, et al. Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. Pediatric Neurology. 2011;45:246-252. 2. 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. 3. Ferreira CR, van Karnebeek CDM. Inborn errors of metabolism. In: deVries LS, Glass HC, eds. Handbook of Clinical Neurology. 2019:162:449-481. 4. Panayiotopoulos CP. Neonatal seizures and neonatal syndromes. In: The Epilepsies: Seizures, Syndromes and Management. Oxfordshire (UK): Bladon Medical Publishing; 2005. 5. Douglas-Escobar M, Weiss MD. Hypoxic-ischemic encephalopathy: a review for the clinician. JAMA Pediatr. 2015;169(4):397-403. 6. Bayram E, Topcu Y, Karakaya P, et al. Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). Eur J Paediatr Neurol. 2013;17(1):1-6. 7. Spiegel R, Schwahn BC, Squires L, Confer N. Molybdenum cofactor deficiency: a natural history. J Inherit Metab Dis. 2022;45(3):456-469. 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. 9. Misko A, Mahtani K, Abbott J, et al. Molybdenum cofactor deficiency. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. 10. MedlinePlus. EEG. Updated January 23, 2022. Accessed January 6, 2023. https://medlineplus.gov/ency/article/003931.htm. 11. MedlinePlus. Head MRI. Updated December 22, 2016. Accessed January 17, 2023. https://medlineplus.gov/ency/article/003791.htm. 12. Atwal PS, Scaglia F. Molybdenum cofactor deficiency. Mol Genet Metab. 2016;117(1):1-4.