Holocarboxylase synthetase deficiency

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Holocarboxylase synthetase deficiency Classification and external resources
OMIM	253270
DiseasesDB	32709
eMedicine	ped/1020
MeSH	D028922

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Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. Affected infants often have immunodeficiency diseases, difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management (using biotin supplements) may prevent many of these complications. If left untreated, the disorder can lead to delayed development, seizures, and coma. These medical problems may be life-threatening in some cases.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.

Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene makes an enzyme, holocarboxylase synthetase, that attaches biotin to other molecules. Biotin, a B vitamin, is found in foods such as liver, egg yolks, and milk. It is essential for the normal production and breakdown of proteins, fats, and carbohydrates in the body. Mutations in the HLCS gene reduce the activity of holocarboxylase synthetase, preventing cells from using biotin effectively and disrupting many cellular functions. These defects lead to the serious medical problems associated with holocarboxylase deficiency.

This article incorporates public domain text from The U.S. National Library of Medicine

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Articles on Holocarboxylase synthetase deficiency	Most recent articles on Holocarboxylase synthetase deficiency • Most cited articles on Holocarboxylase synthetase deficiency • Review articles on Holocarboxylase synthetase deficiency • Articles on Holocarboxylase synthetase deficiency in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Holocarboxylase synthetase deficiency	Powerpoint slides on Holocarboxylase synthetase deficiency • Images of Holocarboxylase synthetase deficiency • Photos of Holocarboxylase synthetase deficiency • Podcasts & MP3s on Holocarboxylase synthetase deficiency • Videos on Holocarboxylase synthetase deficiency
Evidence Based Medicine Regarding Holocarboxylase synthetase deficiency	Cochrane Collaboration on Holocarboxylase synthetase deficiency • Bandolier on Holocarboxylase synthetase deficiency • TRIP on Holocarboxylase synthetase deficiency
Cost Effectiveness of Holocarboxylase synthetase deficiency	Cost Effectiveness of Holocarboxylase synthetase deficiency
Clinical Trials Involving Holocarboxylase synthetase deficiency	Ongoing Trials on Holocarboxylase synthetase deficiency at Clinical Trials.gov • Trial results on Holocarboxylase synthetase deficiency • Clinical Trials on Holocarboxylase synthetase deficiency at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Holocarboxylase synthetase deficiency	US National Guidelines Clearinghouse on Holocarboxylase synthetase deficiency • NICE Guidance on Holocarboxylase synthetase deficiency • NHS PRODIGY Guidance • FDA on Holocarboxylase synthetase deficiency • CDC on Holocarboxylase synthetase deficiency
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Genetics, Pharmacogenomics, and Proteinomics of Holocarboxylase synthetase deficiency	Genetics of Holocarboxylase synthetase deficiency • Pharmacogenomics of Holocarboxylase synthetase deficiency • Proteomics of Holocarboxylase synthetase deficiency
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Healthcare Provider Resources on Holocarboxylase synthetase deficiency	Symptoms of Holocarboxylase synthetase deficiency • Causes & Risk Factors for Holocarboxylase synthetase deficiency • Diagnostic studies for Holocarboxylase synthetase deficiency • Treatment of Holocarboxylase synthetase deficiency
Continuing Medical Education (CME) Programs on Holocarboxylase synthetase deficiency	CME Programs on Holocarboxylase synthetase deficiency
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