Methylmalonic Aciduria and Homocystinuria, Cblf Type (MAHCF)

Alias:

Methylmalonic Aciduria and Homocystinuria Type Cblf

Mahcf

Methylmalonic Aciduria Due to Vitamin B12-Release Defect

Vitamin B12 Lysosomal Release Defect

Cobalamin F Disease

Cblf

Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblf

Aciduria, Methylmalonic, and Homocystinuria, Cblf Type

Methylmalonic Aciduria with Homocystinuria, Type Cblf

Methylmalonic Acidemia and Homocystinuria, Cblf Type

Methylmalonic Acidemia with Homocystinuria Type Cblf

Lysosomal Membrane Cobalamin Transporter Deficiency

Methylmalonic Acidemia and Homocystinuria Cblf Type

Methylmalonicaciduria with Homocystinuria, Cbl F

Cobalamin, Defect in Lysosomal Release of

Methylcobalamin Deficiency Tape F

Vitamin B12 Storage Disease

Vitamin B12 Storage Defect

Cobalamin F Deficiency

Cobalamin F Defect

Cblf Defect

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Methylmalonic Aciduria and Homocystinuria, Cblf Type, also known as methylmalonic aciduria and homocystinuria type cblf, is related to methylmalonic aciduria and homocystinuria, cbld type and methylmalonic aciduria and homocystinuria, cblc type, and has symptoms including exanthema and lethargy. An important gene associated with Methylmalonic Aciduria and Homocystinuria, Cblf Type is LMBRD1 (LMBR1 Domain Containing 1), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include skin and bone marrow, and related phenotypes are methylmalonic aciduria and megaloblastic anemia

Related ID：

MALACARDS：MTH056

OMIM：277380

MESH：D006712