KEGG DISEASE: Methylmalonic aciduria and homocystinuria

KEGG

DISEASE: Methylmalonic aciduria and homocystinuria

Entry

H02221                      Disease

Name

Methylmalonic aciduria and homocystinuria

Subgroup

Methylmalonic acidemia and homocysteinemia, cblX type [DS:H02222]

Supergrp

Methylmalonic aciduria [DS:H00174]
Secondary hyperammonemia [DS:H01400]

Description

Methylmalonic aciduria and homocystinuria (MAHC) is caused by defects of intracellular cobalamin (vitamin B12) metabolism. Derivatives of cobalamin are essential cofactors for enzymes required in intermediary metabolism, and its defects lead to the accumulation of methylmalonic acid and/or homocysteine in blood and urine. Affected persons present with multisystem clinical abnormalities, including developmental, hematologic, neurologic, and metabolic findings.

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
     H02221  Methylmalonic aciduria and homocystinuria
Pathway-based classification of diseases [BR:br08402]
Cofactor/vitamin metabolism
  nt06538  Cobalamin transport and metabolism
   H02221  Methylmalonic aciduria and homocystinuria

Pathway

Vitamin digestion and absorption

Network

nt06538 Cobalamin transport and metabolism

Gene

(MAHCF) LMBRD1 [HSA:55788] [KO:K14617]
(MAHCC) MMACHC [HSA:25974] [KO:K14618]
(MAHCC) PRDX1 [HSA:5052] [KO:K13279]
(MAHCD) MMADHC [HSA:27249] [KO:K26006]
(MAHCJ) ABCD4 [HSA:5826] [KO:K05678]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

277380 277400 277410 614857

Reference

Authors

Watkins D, Rosenblatt DS

Title

Inborn errors of cobalamin absorption and metabolism.

Journal

Am J Med Genet C Semin Med Genet 157C:33-44 (2011)
DOI:10.1002/ajmg.c.30288

Reference

Authors

Alfadhel M, Lillquist YP, Davis C, Junker AK, Stockler-Ipsiroglu S

Title

Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review.

Journal

Am J Med Genet A 155A:2571-7 (2011)
DOI:10.1002/ajmg.a.34220

Reference

Authors

Gueant JL, Chery C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouet D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS

Title

APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Journal

Nat Commun 9:67 (2018)
DOI:10.1038/s41467-017-02306-5

Reference

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

Authors

Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nurnberg P, Thiele H, Robenek H, Hohne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR

Title

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.

Journal

Nat Genet 44:1152-5 (2012)
DOI:10.1038/ng.2386

LinkDB

» Japanese version

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