Synonyms: CblF defect | Cobalamin F defect | Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF | Lysosomal membrane cobalamin transporter deficiency | Methylmalonic aciduria with homocystinuria, type cblF
cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term) an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia lethargy failure to thrive developmental delay intellectual deficit and seizures.
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://www.orphadata.org. Data version April 2026
Newly diagnosed with
Methylmalonic acidemia with homocystinuria type cblF?
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Advocacy Organizations
Canadian PKU and Allied Disorders (CanPKU)
“To improve the lives of people living with PKU and other inherited metabolic disorders by supporting education, advocacy, access to care, and community connection.”
HCU network america
HCU Network America strives to inform and provide resources for patients and families, create connections, influence state and federal policy, and support the advancement of diagnosis and treatment for HCU and related disorders.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
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Clinical Trials
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