Methylmalonic Aciduria and Homocystinuria, Cbld Type (MAHCD)

Alias:

Methylmalonic Aciduria and Homocystinuria Type Cbld

Homocystinuria, Cbld Type, Variant 1

Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2

Mahcd

Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cbld

Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2

Methylmalonic Aciduria and Homocystinuria Cbld-Combined

Methylmalonic Aciduria and Homocystinuria Cbld Original

Aciduria, Methylmalonic, and Homocystinuria, Cbld Type

Functional Methionine Synthase Deficiency Type Cbldv1

Methylmalonic Acidemia with Homocystinuria, Type Cbld

Methylmalonic Aciduria with Homocystinuria, Type Cbld

Methylmalonic Acidemia and Homocystinuria, Cbld Type

Methylmalonic Acidemia and Homocystinuria Cbld Type

Methylmalonicacidemia with Homocystinuria, Cbl D

Methylmalonic Aciduria, Cbld Type, Variant 2

Methylmalonic Aciduria, Cblh Type, Formerly

Methylmalonic Acidemia, Cblh Type, Formerly

Methylcobalamin Deficiency Type Cbldv1

Methylmalonic Aciduria Cbld Variant 2

Homocystinuria Cbld Variant 1

Cobalamin D Deficiency

Cobalamin D Defect

Cbld Defect

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Methylmalonic Aciduria and Homocystinuria, Cbld Type, also known as methylmalonic aciduria and homocystinuria type cbld, is related to methylmalonic aciduria and homocystinuria, cblf type and disorders of intracellular cobalamin metabolism. An important gene associated with Methylmalonic Aciduria and Homocystinuria, Cbld Type is MMADHC (Metabolism Of Cobalamin Associated D), and among its related pathways/superpathways are Infectious disease and Metabolism. Affiliated tissues include bone marrow and bone, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：MTH055

OMIM：277410

MESH：D006712