| 词条 | Holocarboxylase synthetase deficiency |
| 释义 |
| name = Holocarboxylase synthetase deficiency | image = biotin structure.svg | caption = Biotin | | pronounce = | field = | synonyms = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively.[1] This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. Symptoms are very similar to biotinidase deficiency and treatment – large doses of biotin – is also the same.{{citation needed|date=May 2017}} Symptoms and signs{{Empty section|date=May 2017}}GeneticsMutations 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. This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. DiagnosisThe 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. Treatment{{Empty section|date=May 2017}}See also
References1. ^{{Cite web|url=https://ghr.nlm.nih.gov/condition/holocarboxylase-synthetase-deficiency|title=holocarboxylase synthetase deficiency|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2017-05-09}} This article incorporates public domain text from The U.S. National Library of MedicineExternal links{{Medical resources| DiseasesDB = 32709 | ICD10 = E53.8 | ICD9 = | ICDO = | OMIM = 253270 | MedlinePlus = | eMedicineSubj = ped | eMedicineTopic = 1020 | MeshID = D028922 | Orphanet = 79242 }}{{Metabolic disorders of vitamins, coenzymes, and cofactors}} 4 : Autosomal recessive disorders|Vitamin, coenzyme, and cofactor metabolism disorders|Genodermatoses|Rare diseases |
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