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).
- 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
- NHGRI researchers help identify new metabolic disorder caused by faulty gene expression
- Genetic analysis of a handful of patients with an undiagnosed condition leads to discovery of new disease
- 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.
Meet our Children with Cobalamin X
