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Multiple carboxylase deficiency

MedGen UID:
10119
•Concept ID:
C0026755
•
Disease or Syndrome
Synonym: Biotin-Responsive Multiple Carboxylase Deficiencies
SNOMED CT: Multiple carboxylase deficiency (1172966001)
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)
 
Related genes: HLCS, BTD
 
Monarch Initiative: MONDO:0015454
Orphanet: ORPHA148

Definition

A group of inborn errors of biotin metabolism characterised by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Multiple carboxylase deficiency in Orphanet.

Professional guidelines

PubMed

Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.
Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health, Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Feb 25;51(1):129-135. doi: 10.3724/zdxbyxb-2022-0164. PMID: 35576117Free PMC Article
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Thiboonboon K, Leelahavarong P, Wattanasirichaigoon D, Vatanavicharn N, Wasant P, Shotelersuk V, Pangkanon S, Kuptanon C, Chaisomchit S, Teerawattananon Y
PLoS One 2015;10(8):e0134782. Epub 2015 Aug 10 doi: 10.1371/journal.pone.0134782. PMID: 26258410Free PMC Article
Prenatal treatment of multiple carboxylase deficiency.
Roth KS
Ann N Y Acad Sci 1985;447:263-71. doi: 10.1111/j.1749-6632.1985.tb18444.x. PMID: 3925857

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-OH Acylcarnitine, Organic Acidemias, 2022

American College of Medical Genetics and Genomics, Algorithm, Organic Acidemias: Elevated C5-OH, 2022

Recent clinical studies

Therapy

Biotin-responsive Multiple Carboxylase Deficiency (MCD).
Majid H, Ahmed S, Muneer S, Hamid R, Jafri L, Khan AH
J Coll Physicians Surg Pak 2022 Jun;32(6):823-825. doi: 10.29271/jcpsp.2022.06.823. PMID: 35686422
Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.
Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health, Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Feb 25;51(1):129-135. doi: 10.3724/zdxbyxb-2022-0164. PMID: 35576117Free PMC Article
Biotin.
Altern Med Rev 2007 Mar;12(1):73-8. PMID: 17397270
Biotinidase deficiency.
Wolf B, Heard GS
Adv Pediatr 1991;38:1-21. PMID: 1927696
Prenatal treatment of multiple carboxylase deficiency.
Roth KS
Ann N Y Acad Sci 1985;447:263-71. doi: 10.1111/j.1749-6632.1985.tb18444.x. PMID: 3925857

Prognosis

Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Hui J, Tang NL, Li CK, Law LK, To KF, Yau P, Fung SL, Chong JS, Tsung L, Chiang G, Fung E, Cheung KL, Yeung WL, Fok TF
Pathology 2014 Aug;46(5):375-82. doi: 10.1097/PAT.0000000000000140. PMID: 24992243
Outcome of organic acidurias in China.
Yang Y, Yao Z, Song J, Hasegawa Y, Kimura M, Yamaguchi S, Jiang Y, Qin J, Wu X
Ann Acad Med Singap 2008 Dec;37(12 Suppl):120-3. PMID: 19904473
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Bailey LM, Ivanov RA, Jitrapakdee S, Wilson CJ, Wallace JC, Polyak SW
Hum Mutat 2008 Jun;29(6):E47-57. doi: 10.1002/humu.20766. PMID: 18429047
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Baumgartner ER, Suormala T
Int J Vitam Nutr Res 1997;67(5):377-84. PMID: 9350481

Clinical prediction guides

Biotin-responsive Multiple Carboxylase Deficiency (MCD).
Majid H, Ahmed S, Muneer S, Hamid R, Jafri L, Khan AH
J Coll Physicians Surg Pak 2022 Jun;32(6):823-825. doi: 10.29271/jcpsp.2022.06.823. PMID: 35686422
Holocarboxylase synthetase knockout is embryonic lethal in mice.
Sadri M, Wang H, Kuroishi T, Li Y, Zempleni J
PLoS One 2022;17(4):e0265539. Epub 2022 Apr 6 doi: 10.1371/journal.pone.0265539. PMID: 35385533Free PMC Article
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Baumgartner ER, Suormala T
Int J Vitam Nutr Res 1997;67(5):377-84. PMID: 9350481
Biotinidase deficiency: initial clinical features and rapid diagnosis.
Wolf B, Heard GS, Weissbecker KA, McVoy JR, Grier RE, Leshner RT
Ann Neurol 1985 Nov;18(5):614-7. doi: 10.1002/ana.410180517. PMID: 4073853
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
Wolf B, Hsia YE, Sweetman L, Feldman G, Boychuk RB, Bart RD, Crowell DH, Di Mauro RM, Nyhan WL
Pediatrics 1981 Jul;68(1):113-8. PMID: 6787561

Supplemental Content

Table of contents

    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 C5-OH Acylcarnitine, Organic Acidemias, 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Algorithm, Organic Acidemias: Elevated C5-OH, 2022

    Reviews

    Related information

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

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