Homocystinuria without methylmalonic aciduria
Synonyms: Functional methionine synthase deficiency | Methylcobalamin deficiency
Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia encephalopathy and sometimes developmental delay and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE cblG and cblD-variant 1 (cblDv1).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Homocystinuria without methylmalonic aciduria?
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Canadian PKU and Allied Disorders (CanPKU)
To help those who live with rare diseases that are manage by a restricted protein medical diet bringing education, awareness and advocacy to the community
Moonshots for Unicorns
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COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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).
Louisiana Metabolic Disorders Coalition
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Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Youth and Women for Opportunities Uganda-YWOU
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