Cobalamin X: Methylmalonic Acidemia and Homocysteinemia, cblX type

Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013).

Informative Websites

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 (MMA Cbl X)
Meet Max – Cbl X
Discovery of a rare disease in Colorado boy boosts science and hope (Denver Post Article – September 5, 2013)
Peering into genetic defects (University of Colorado)
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

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