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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

Etiology

Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.
Teive HAG, Camargo CHF, Pereira ER, Coutinho L, Munhoz RP
Neurogenetics 2022 Jul;23(3):167-177. Epub 2022 Apr 9 doi: 10.1007/s10048-022-00688-3. PMID: 35397036
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
Biotin in metabolism, gene expression, and human disease.
León-Del-Río A
J Inherit Metab Dis 2019 Jul;42(4):647-654. Epub 2019 Mar 19 doi: 10.1002/jimd.12073. PMID: 30746739
Fetal drug therapy.
Evans MI, Pryde PG, Reichler A, Bardicef M, Johnson MP
West J Med 1993 Sep;159(3):325-32. PMID: 8236974Free PMC Article
Prenatal treatment of biotin responsive multiple carboxylase deficiency.
Packman S, Cowan MJ, Golbus MS, Caswell NM, Sweetman L, Burri BJ, Nyhan WL, Baker H
Lancet 1982 Jun 26;1(8287):1435-8. doi: 10.1016/s0140-6736(82)92452-7. PMID: 6123722

Diagnosis

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
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
Magnetic resonance imaging in lactic acidosis.
van der Knaap MS, Jakobs C, Valk J
J Inherit Metab Dis 1996;19(4):535-47. doi: 10.1007/BF01799114. PMID: 8884577
Biotinidase deficiency.
Wolf B, Heard GS
Adv Pediatr 1991;38:1-21. PMID: 1927696
Inborn errors of biotin metabolism.
Nyhan WL
Arch Dermatol 1987 Dec;123(12):1696-1698a. PMID: 3318710

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
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
Inborn errors of biotin metabolism.
Nyhan WL
Arch Dermatol 1987 Dec;123(12):1696-1698a. PMID: 3318710
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
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency.
Sakamoto O, Suzuki Y, Aoki Y, Li X, Hiratsuka M, Yanagihara K, Inui K, Okabe T, Yamaguchi S, Kudoh J, Shimizu N, Narisawa K
J Inherit Metab Dis 1998 Dec;21(8):873-4. doi: 10.1023/a:1005435121933. PMID: 9870216
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
Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene.
Pomponio RJ, Reynolds TR, Mandel H, Admoni O, Melone PD, Buck GA, Wolf B
Hum Mol Genet 1997 May;6(5):739-45. doi: 10.1093/hmg/6.5.739. PMID: 9158148
Prenatal treatment of biotin responsive multiple carboxylase deficiency.
Packman S, Cowan MJ, Golbus MS, Caswell NM, Sweetman L, Burri BJ, Nyhan WL, Baker H
Lancet 1982 Jun 26;1(8287):1435-8. doi: 10.1016/s0140-6736(82)92452-7. PMID: 6123722

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
Neonatal screening for biotinidase deficiency.
Forman DT, Bankson DD, Highsmith WE Jr
Ann Clin Lab Sci 1992 May-Jun;22(3):144-54. PMID: 1503382
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
Dubiel B, Dabrowski C, Wetts R, Tanaka K
J Clin Invest 1983 Nov;72(5):1543-52. doi: 10.1172/JCI111113. PMID: 6630517Free PMC Article

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    • PubMed
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    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
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      Related literature resources in PubMed

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