KEGG DISEASE: Methylmalonic aciduria

DISEASE: Methylmalonic aciduria

Entry

H00174                      Disease

Name

Methylmalonic aciduria;
Methylmalonic acidemia

Subgroup

Methylmalonic aciduria mut type (MAMM)
Methylmalonic aciduria cblA type (MACA)
Methylmalonic aciduria cblB type (MACB)
Methylmalonic aciduria, transient, due to transcobalamin receptor defect (MATR)
Methylmalonyl-CoA epimerase deficiency (MCE)
Methylmalonic aciduria and homocystinuria [DS:H02221]

Supergrp

Secondary hyperammonemia [DS:H01400]

Description

Methylmalonic aciduria (MMA) is caused by a deficiency of methylmalonyl-CoA mutase (mut type), which is a vitamin B12-dependent enzyme. Defects of adenosylcobalamin metabolism lead to variant forms of MMA (cblA and cblB type).

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00174  Methylmalonic aciduria
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06024  Valine, leucine and isoleucine degradation
   H00174  Methylmalonic aciduria
Cofactor/vitamin metabolism
  nt06538  Cobalamin transport and metabolism
   H00174  Methylmalonic aciduria

Pathway

hsa00280

Valine, leucine and isoleucine degradation

hsa04980

Cobalamin transport and metabolism

Network

nt06024 Valine, leucine and isoleucine degradation
nt06538 Cobalamin transport and metabolism

Gene

(MAMM) MMUT [HSA:4594] [KO:K01847]
(MACA) MMAA [HSA:166785] [KO:K07588]
(MACB) MMAB [HSA:326625] [KO:K00798]
(MACD) MMADHC [HSA:27249] [KO:K26006]
(MATR) CD320 [HSA:51293] [KO:K06734]
(MCE) MCEE [HSA:84693] [KO:K05606]

Other DBs

ICD-11:

5C50.E0

ICD-10:

E71.1

MeSH:

C565390 C537360 C537361

OMIM:

251000 251100 251110 620953 613646 251120

Reference

PMID:16602092

Authors

Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C

Title

Methylmalonic and propionic aciduria.

Journal

Am J Med Genet C Semin Med Genet 142C:104-12 (2006)
DOI:10.1002/ajmg.c.30090

Reference

PMID:12069539

Authors

Ogier de Baulny H, Saudubray JM

Title

Branched-chain organic acidurias.

Journal

Semin Neonatol 7:65-74 (2002)
DOI:10.1053/siny.2001.0087

Reference

PMID:1977311 (MAMM)

Authors

Jansen R, Ledley FD

Title

Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.

Journal

Am J Hum Genet 47:808-14 (1990)

Reference

PMID:12438653 (MACA)

Authors

Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Dore C, Hudson T, Rosenblatt DS, Gravel RA

Title

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.

Journal

Proc Natl Acad Sci U S A 99:15554-9 (2002)
DOI:10.1073/pnas.242614799

Reference

PMID:12471062 (MACB)

Authors

Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA

Title

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

Journal

Hum Mol Genet 11:3361-9 (2002)
DOI:10.1093/hmg/11.26.3361

Reference

PMID:18385497 (MACD)

Authors

Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B

Title

Gene identification for the cblD defect of vitamin B12 metabolism.

Journal

N Engl J Med 358:1454-64 (2008)
DOI:10.1056/NEJMoa072200

Reference

PMID:20524213 (MATR)

Authors

Quadros EV, Lai SC, Nakayama Y, Sequeira JM, Hannibal L, Wang S, Jacobsen DW, Fedosov S, Wright E, Gallagher RC, Anastasio N, Watkins D, Rosenblatt DS

Title

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).

Journal

Hum Mutat 31:924-9 (2010)
DOI:10.1002/humu.21297

Reference

PMID:16752391 (MCE)

Authors

Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M

Title

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Journal

Hum Mutat 27:640-3 (2006)
DOI:10.1002/humu.20373

LinkDB

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