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Vitamin B12-responsive methylmalonic acidemia

MedGen UID:
575193
•Concept ID:
C0342720
•
Disease or Syndrome
Synonyms: Adenosylcobalamin deficiency; adenosylcobalamin deficiency; Adenosylcobalamin synthesis defect; Methylmalonic acidemia due to defects in adenosylcobalamin biosynthesis; Methylmalonic aciduria, type II; vitamin B12-responsive methylmalonic acidemia; Vitamin B12-responsive methylmalonic aciduria; vitamin B12-responsive methylmalonic aciduria
SNOMED CT: Adenosylcobalamin synthesis defect (69614003); Methylmalonic aciduria, type II (69614003); Methylmalonic acidemia due to defects in adenosylcobalamin biosynthesis (69614003); Vitamin B12-responsive methylmalonic acidemia (69614003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017214
Orphanet: ORPHA28

Definition

An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: <i>cblA, cblB</i> and <i>cblD</i>-variant 2 (<i>cblD</i>v2). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVitamin B12-responsive methylmalonic acidemia

Recent clinical studies

Etiology

Urinary organic metabolite screening of children with influenza-associated encephalopathy for inborn errors of metabolism using GC/MS.
Purevsuren J, Hasegawa Y, Kobayashi H, Endo M, Yamaguchi S
Brain Dev 2008 Sep;30(8):520-6. Epub 2008 Feb 11 doi: 10.1016/j.braindev.2008.01.001. PMID: 18262742
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA
Proc Natl Acad Sci U S A 2002 Nov 26;99(24):15554-9. Epub 2002 Nov 15 doi: 10.1073/pnas.242614799. PMID: 12438653Free PMC Article
Long-term management of a patient with vitamin B12-responsive methylmalonic acidemia.
Morrow G 3rd, Burkel GM
J Pediatr 1980 Mar;96(3 Pt 1):425-6. doi: 10.1016/s0022-3476(80)80687-1. PMID: 7359235

Diagnosis

Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia.
Keyfi F, Abbaszadegan MR, Rolfs A, Orolicki S, Moghaddassian M, Varasteh A
Cell Mol Biol Lett 2016;21:4. Epub 2016 Jul 28 doi: 10.1186/s11658-016-0005-1. PMID: 28536607Free PMC Article
Urinary organic metabolite screening of children with influenza-associated encephalopathy for inborn errors of metabolism using GC/MS.
Purevsuren J, Hasegawa Y, Kobayashi H, Endo M, Yamaguchi S
Brain Dev 2008 Sep;30(8):520-6. Epub 2008 Feb 11 doi: 10.1016/j.braindev.2008.01.001. PMID: 18262742
Prenatal treatment of a patient with vitamin B12-responsive methylmalonic acidemia.
van der Meer SB, Spaapen LJ, Fowler B, Jakobs C, Kleijer WJ, Wendel U
J Pediatr 1990 Dec;117(6):923-6. doi: 10.1016/s0022-3476(05)80138-6. PMID: 2246694
Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.
Ampola MG, Mahoney MJ, Nakamura E, Tanaka K
N Engl J Med 1975 Aug 14;293(7):313-7. doi: 10.1056/NEJM197508142930701. PMID: 239344

Therapy

Prenatal treatment of a patient with vitamin B12-responsive methylmalonic acidemia.
van der Meer SB, Spaapen LJ, Fowler B, Jakobs C, Kleijer WJ, Wendel U
J Pediatr 1990 Dec;117(6):923-6. doi: 10.1016/s0022-3476(05)80138-6. PMID: 2246694
Long-term management of a patient with vitamin B12-responsive methylmalonic acidemia.
Morrow G 3rd, Burkel GM
J Pediatr 1980 Mar;96(3 Pt 1):425-6. doi: 10.1016/s0022-3476(80)80687-1. PMID: 7359235
Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.
Ampola MG, Mahoney MJ, Nakamura E, Tanaka K
N Engl J Med 1975 Aug 14;293(7):313-7. doi: 10.1056/NEJM197508142930701. PMID: 239344

Prognosis

Urinary organic metabolite screening of children with influenza-associated encephalopathy for inborn errors of metabolism using GC/MS.
Purevsuren J, Hasegawa Y, Kobayashi H, Endo M, Yamaguchi S
Brain Dev 2008 Sep;30(8):520-6. Epub 2008 Feb 11 doi: 10.1016/j.braindev.2008.01.001. PMID: 18262742
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA
Proc Natl Acad Sci U S A 2002 Nov 26;99(24):15554-9. Epub 2002 Nov 15 doi: 10.1073/pnas.242614799. PMID: 12438653Free PMC Article
Prenatal treatment of a patient with vitamin B12-responsive methylmalonic acidemia.
van der Meer SB, Spaapen LJ, Fowler B, Jakobs C, Kleijer WJ, Wendel U
J Pediatr 1990 Dec;117(6):923-6. doi: 10.1016/s0022-3476(05)80138-6. PMID: 2246694
Long-term management of a patient with vitamin B12-responsive methylmalonic acidemia.
Morrow G 3rd, Burkel GM
J Pediatr 1980 Mar;96(3 Pt 1):425-6. doi: 10.1016/s0022-3476(80)80687-1. PMID: 7359235

Clinical prediction guides

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA
Proc Natl Acad Sci U S A 2002 Nov 26;99(24):15554-9. Epub 2002 Nov 15 doi: 10.1073/pnas.242614799. PMID: 12438653Free PMC Article

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C3 Acylcarnitine, Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA), 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Algorithm, Propionic and Methylmalonic Acidemia: C3 Elevated, 2022

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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