CblF Type Methylmalonic Aciduria and Homocystinuria

mutation in LMBRD1

Also Known As:

Methylmalonic Aciduria and Homocystinuria, CblF Type; Cobalamin F Disease; Cobalamin, Defect in Lysosomal Release of; Methylmalonic Acidemia and Homocystinuria, CblF Type; Methylmalonic Aciduria due to Vitamin B12-Release Defect; Vitamin B12 Lysosomal Release Defect; Vitamin B12 Storage Disease

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Stomatitis
2.	Seizures (Absence Seizure)
3.	Muscle Hypotonia (Hypotonia)
4.	Intellectual Disability (Idiocy)
5.	Failure to Thrive

Experts

1.	Alfadhel, Majid: 1 article (10/2011)
2.	Davis, Cynthia: 1 article (10/2011)
3.	Junker, Anne K: 1 article (10/2011)
4.	Lillquist, Yolanda P: 1 article (10/2011)
5.	Stockler-Ipsiroglu, Sylvia: 1 article (10/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to CblF Type Methylmalonic Aciduria and Homocystinuria:

1.	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 10/01/2011 - "Cobalamin F disease (cblF) is a rare disorder of intracellular cobalamin metabolism resulting in failure to thrive, recurrent stomatitis, skin rash, megaloblastic anemia, hypotonia, seizures, and intellectual disability. " 12/01/1995 - "A similar biochemical profile and clinical presentation is also seen in cobalamin F disease, which results from a defect in the release of cobalamin from lysosomes, following receptor-mediated endocytosis of the transcobalamin II-cobalamin complex into cells. "
2.	Transcobalamins (Transcobalamin II)IBA 12/01/1995 - "A similar biochemical profile and clinical presentation is also seen in cobalamin F disease, which results from a defect in the release of cobalamin from lysosomes, following receptor-mediated endocytosis of the transcobalamin II-cobalamin complex into cells. "