Methylmalonic acidemia with homocystinuria

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Methylmalonic acidemia with homocystinuria

Synonyms: Combined defect in adenosylcobalamin and methylcobalamin synthesis | Methylmalonic aciduria with homocystinuria

A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia lethargy failure to thrive developmental delay intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC cblD cblF and cblJ) that are responsible for methylmalonic acidemia – homocystinuria (methylmalonic acidemia – homocystinuria cblC cblD cblF and cblJ).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Methylmalonic acidemia with homocystinuria?

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Advocacy Organizations

Organic Acidemia Association

Our mission is to empower families and health care professionals with knowledge in these disorders. We support early intervention through expanded newborn screening, solicit contributions, and distribute funding that supports research toward improved treatment, and eventual cures in the areas of Organic Acid disorders.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Youth and Women for Opportunities Uganda-YWOU

Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery

Clinical Trials

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