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multiple carboxylase deficiency (MCD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple carboxylase deficiency

MONDO:0015454

Also known as:MCD

Overview

Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized 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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Individuals with biotinidase deficiency who are diagnosed before they have developed symptoms (e.g., by newborn screening) and who are treated with biotin have normal development [, , , ] (see also Management, and ). Neurologic problems, including seizures, optic atrophy, and hearing loss, occur only in those individuals with biotinidase deficiency who have recurrent symptoms and metabolic compromise prior to biotin treatment.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for biotinidase deficiency have been published.

Suggestive Findings

Scenario 1: Abnormal Newborn Screening (NBS) Result

NBS for biotinidase deficiency is primarily based on either fluorescent or colorimetric tests for biotinidase activity on dried blood spots. Putative positive samples have biotinidase activities below cutoff values established by the respective screening laboratory. Confirmational testing requires follow-up measurement of biotinidase activity in serum/plasma. Note: False positive newborn screening test results may occur in premature infants and in samples placed in plastic prior to sufficient drying.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for multiple carboxylase deficiency. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for biotinidase deficiency have been published. However, (full text) refers to some basic recommendations. When biotinidase deficiency is suspected during the diagnostic evaluation (i.e., due to decreased biotinidase activity on a newborn blood spot), biotin treatment should be initiated immediately. Biotinidase deficiency or other biotin-related disorders, such as holocarboxylase synthetase deficiency , should be excluded before biotin supplementation is discontinued.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to targeted and supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 7. Biotinidase Deficiency: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for multiple carboxylase deficiency.

31 publications have been identified in PubMed for multiple carboxylase deficiency. Research spans Case Report / Case Series (45%), Diagnostic / Biomarker (13%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Patient case studies	14	45%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:148

GARD

Genetic and Rare Diseases Info Center

GARD:3824

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

multiple carboxylase deficiency

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Scenario 1: Abnormal Newborn Screening (NBS) Result

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Evaluations Following Initial Diagnosis

Genetics/ Genetic counseling

Constitutional

Neurologic

Hearing

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

multiple carboxylase deficiency

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Scenario 1: Abnormal Newborn Screening (NBS) Result

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Evaluations Following Initial Diagnosis

Genetics/ Genetic counseling

Constitutional

Neurologic

Hearing

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications