Methylmalonic Aciduria and Homocystinuria, Cblc Type (MAHCC)

Alias:

Mahcc

Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase

Methylmalonic Aciduria and Homocystinuria, Cblc Type, Digenic

Methylmalonic Aciduria and Homocystinuria Type Cblc

Methylmalonic Acidemia with Homocystinuria Cblc

Cobalamin C Disease

Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblc

Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive

Methylmalonic Aciduria and Homocystinuria Vitamin B12-Responsive

Aciduria, Methylmalonic, and Homocystinuria, Cblc Type

Methylmalonic Acidemia with Homocystinuria, Type Cblc

Methylmalonic Aciduria with Homocystinuria, Type Cblc

Methylmalonic Acidemia and Homocystinuria, Cblc Type

Methylmalonic Acidemia and Homocystinuria Cblc Type

Methylmalonic Acidemia with Homocystinuria

Cobalamin C Deficiency

Cobalamin C Defect

Cblc Defect

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Methylmalonic Aciduria and Homocystinuria, Cblc Type, also known as mahcc, is related to methylmalonic aciduria and homocystinuria, cblf type and methylmalonic aciduria and homocystinuria, cbld type, and has symptoms including lethargy and seizures. An important gene associated with Methylmalonic Aciduria and Homocystinuria, Cblc Type is MMACHC (Metabolism Of Cobalamin Associated C), and among its related pathways/superpathways are Infectious disease and Metabolism. The drugs Hydroxocobalamin and Cyanocobalamin have been mentioned in the context of this disorder. Affiliated tissues include eye and spinal cord, and related phenotypes are intellectual disability and methylmalonic aciduria

Related ID：

MALACARDS：MTH054

OMIM：277400

MESH：D006712