National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Multiple carboxylase deficiency

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 148

Definition
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.

Epidemiology
The prevalence of MCD is unknown, but the condition is rare. There is no specific geographic or ethnic predominance.

Clinical description
There are two major clinical forms of MCD depending on their underlying cause: biotinidase deficiency (see this term) in which affected individuals typically develop symptoms of variable severity during the first few months of life, and holocarboxylase synthetase deficiency (see this term) in which affected individuals usually develop symptoms within hours, days or weeks of birth.

Etiology
Biotinidase deficiency is caused by mutations in the BTD gene (3p25) and holocarboxylase synthetase deficiency by mutations in the HLCS gene (21q22.1).

Genetic counseling
Both disorders are inherited as autosomal recessive traits.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters
[ more ] 		0008066
Alopecia
Hair loss
0001596
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Global developmental delay 0001263
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Inflammatory abnormality of the eye 0100533
Lethargy 0001254
Muscular hypotonia
Low or weak muscle tone
0001252
Nausea and vomiting 0002017
Seizure 0001250
Skin rash 0000988
Skin vesicle 0200037
30%-79% of people have these symptoms
Abnormality of vision
Abnormality of sight
Vision issue
[ more ] 		0000504
Weight loss 0001824
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Last updated: 7/1/2020

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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