Methylmalonic Aciduria, Cblb Type (MMAB)

Alias:
Methylmalonic Aciduria Cblb Type
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Complementation Type
Methylmalonic Acidemia Cblb Type
Mmab
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Type
Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type
Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb
Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B
Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb
Aciduria, Methylmalonic, Cblb Type
Methylmalonic Acidemia, Cblb Type
Methylmalonic Aciduria Type Cblb
Methylmalonic Aciduria Type B
Methylmalonic Acidemia
Methylmalonic Aciduria
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Methylmalonic Aciduria, Cblb Type, also known as methylmalonic aciduria cblb type, is related to methylmalonic aciduria due to methylmalonyl-coa mutase deficiency and isolated methylmalonic acidemia, and has symptoms including lethargy, vomiting and respiratory distress. An important gene associated with Methylmalonic Aciduria, Cblb Type is MMAB (Metabolism Of Cobalamin Associated B), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Metronidazole and Biotin have been mentioned in the context of this disorder. Affiliated tissues include prostate and heart, and related phenotypes are failure to thrive and hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
15
77
39

Medical Symptom

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Description
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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