Methylmalonic aciduria cblB type

Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type

Also Known As:

Methylmalonic Acidemia, cblB Type; Methylmalonic Aciduria, cblB Type; Methylmalonic acidemia cblB type

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Methylmalonic aciduria cblB type: 4
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Methylmalonic aciduria cblB type: 4

Experts

1.	Desviat, L R: 2 articles (01/2022 - 01/2018)
2.	Pérez, B: 2 articles (01/2022 - 01/2018)
3.	Richard, E: 2 articles (01/2022 - 01/2018)
4.	Ugarte, M: 2 articles (01/2022 - 01/2018)
5.	Briso-Montiano, Á: 1 article (01/2022)
6.	Morato, E: 1 article (01/2022)
7.	Rodríguez-Pombo, P: 1 article (01/2022)
8.	Ruiz-Sala, P: 1 article (01/2022)
9.	Vilas, A: 1 article (01/2022)
10.	Alonso-Barroso, E: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Methylmalonic aciduria cblB type:

1.	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 03/01/2006 - "Methylmalonic aciduria, cblB type (OMIM 251110) is an inborn error of vitamin B(12) metabolism that occurs due to mutations in the MMAB gene. "
2.	NucleotidesIBA 01/01/2018 - "Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). "
3.	HDL CholesterolIBA 05/15/2010 - "In a GWAS for high-density lipoprotein-cholesterol (HDL-C) level, one strongly associated locus contains at least two biologically compelling candidates, methylmalonic aciduria cblB type (MMAB) and mevalonate kinase (MVK). "
4.	EnzymesIBA 01/01/2022 - "Methylmalonic aciduria cblB type (MMA cblB type, MMAB OMIM #251110), caused by a deficiency in the enzyme ATP:cob(I)alamin adenosyltransferase (ATR, E.C_2. 5.1.17), is a severe metabolic disorder with a poor prognosis despite treatment. "
5.	Adenosine Triphosphate (ATP)IBA 01/01/2022 - "Methylmalonic aciduria cblB type (MMA cblB type, MMAB OMIM #251110), caused by a deficiency in the enzyme ATP:cob(I)alamin adenosyltransferase (ATR, E.C_2. 5.1.17), is a severe metabolic disorder with a poor prognosis despite treatment. "
6.	mevalonate kinaseIBA 05/15/2010 - "In a GWAS for high-density lipoprotein-cholesterol (HDL-C) level, one strongly associated locus contains at least two biologically compelling candidates, methylmalonic aciduria cblB type (MMAB) and mevalonate kinase (MVK). "
7.	cob(I)alamin adenosyltransferaseIBA 01/01/2022 - "Methylmalonic aciduria cblB type (MMA cblB type, MMAB OMIM #251110), caused by a deficiency in the enzyme ATP:cob(I)alamin adenosyltransferase (ATR, E.C_2. 5.1.17), is a severe metabolic disorder with a poor prognosis despite treatment. "