Molybdenum Cofactor Deficiency

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Xu, R. Molybdenum Cofactor Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4257 (accessed on 28 September 2026).

Xu R. Molybdenum Cofactor Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4257. Accessed September 28, 2026.

Xu, Rita. "Molybdenum Cofactor Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4257 (accessed September 28, 2026).

Xu, R. (2020, December 23). Molybdenum Cofactor Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4257

Xu, Rita. "Molybdenum Cofactor Deficiency." Encyclopedia. Web. 23 December, 2020.

Molybdenum Cofactor Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/molybdenum-cofactor-deficiency

Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as "coarse."

genetic conditions

References

Bayram E, Topcu Y, Karakaya P, Yis U, Cakmakci H, Ichida K, Kurul SH.Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). Eur JPaediatr Neurol. 2013 Jan;17(1):1-6. doi: 10.1016/j.ejpn.2012.10.003.
Mendel RR. The molybdenum cofactor. J Biol Chem. 2013 May 10;288(19):13165-72.doi: 10.1074/jbc.R113.455311.
Reiss J, Gross-Hardt S, Christensen E, Schmidt P, Mendel RR, Schwarz G. Amutation in the gene for the neurotransmitter receptor-clustering proteingephyrin causes a novel form of molybdenum cofactor deficiency. Am J Hum Genet.2001 Jan;68(1):208-13.
Reiss J, Johnson JL. Mutations in the molybdenum cofactor biosynthetic genesMOCS1, MOCS2, and GEPH. Hum Mutat. 2003 Jun;21(6):569-76. Review.
Veldman A, Santamaria-Araujo JA, Sollazzo S, Pitt J, Gianello R, Yaplito-LeeJ, Wong F, Ramsden CA, Reiss J, Cook I, Fairweather J, Schwarz G. Successfultreatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics. 2010May;125(5):e1249-54. doi: 10.1542/peds.2009-2192.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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