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Multiple carboxylase deficiency

disorder
SNOMED 1172966001CUI C0026755

Overview

Multiple carboxylase deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Multiple Carboxylase Deficiency" from the MEDLINE/PubMed database.

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Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
[object Object], [object Object], [object Object] · J Coll Physicians Surg Pak · 2021
PMID: 33546543Case Report
[Gene variant analysis of a patient with multiple carboxylase deficiency].
[object Object], [object Object], [object Object] et al. · Zhonghua Yi Xue Yi Chuan Xue Za Zhi · 2020
PMID: 32219826Case Report
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy.
[object Object], [object Object], [object Object] et al. · Brain Dev · 2009
PMID: 19201116Case Report
Genetic mimics of cerebral palsy.
[object Object], [object Object], [object Object] et al. · Mov Disord · 2019
PMID: 30913345Review
Biotin in metabolism, gene expression, and human disease.
[object Object] · J Inherit Metab Dis · 2019
PMID: 30746739Review
[Biotin-responsive multiple carboxylase deficiency].
[object Object] · Ryoikibetsu Shokogun Shirizu · 2000
PMID: 11212743Review
Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.
[object Object], [object Object], [object Object] · Zhejiang Da Xue Xue Bao Yi Xue Ban · 2022
PMID: 35576117OtherFull text (PMC)
Biotin-responsive Multiple Carboxylase Deficiency (MCD).
[object Object], [object Object], [object Object] et al. · J Coll Physicians Surg Pak · 2022
PMID: 35686422Other
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
[object Object], [object Object], [object Object] et al. · Mitochondrion · 2019
PMID: 29307858OtherFull text (PMC)
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
[object Object], [object Object], [object Object] et al. · PLoS One · 2015
PMID: 26258410OtherFull text (PMC)
Search all PubMed articles for Multiple carboxylase deficiency

Research data from MEDLINE/PubMed

Related Conditions

Biotinidase deficiency(child)
Holocarboxylase synthase deficiency(child)
Specific enzyme deficiency(parent)
Recessive hereditary disorder (autosomal)(parent)
Inborn error of metabolism(parent)
Disorder of amino acid and organic acid metabolism(parent)

Quick Facts

SNOMED CT
1172966001
UMLS CUI
C0026755
Fully Specified Name
Multiple carboxylase deficiency (disorder)
Specialists
0
Diagnostic Biomarkers
0
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.