Methylmalonic acidemia with homocystinuria, type cblC
Synonyms: CblC defect | Cobalamin C defect | Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC | Methylmalonic aciduria with homocystinuria, type cblC
cblC 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 September 2023.
Newly diagnosed with
Methylmalonic acidemia with homocystinuria, type cblC?
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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.
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.
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain 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).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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
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
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.