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distress","onset_id":null,"reference":"ORPHA:79242","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/holocarboxylase-synthetase-deficiency\">Holocarboxylase synthetase deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Holocarboxylase synthetase attaches biotin to certain enzymes that are essential for the normal production and breakdown of proteins, fats, and carbohydrates in the body. Mutations in the HLCS gene reduce the enzyme&#x27;s ability to attach biotin to these enzymes, preventing them from processing nutrients properly and disrupting many cellular functions. These defects lead to the serious medical problems associated with holocarboxylase synthetase deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/holocarboxylase-synthetase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Holocarboxylase synthetase deficiency?"},{"bodyHtml":"<p>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 difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management with 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.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/holocarboxylase-synthetase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"holocarboxylase-synthetase-deficiency","sourceDocuments":[{"name":"Holocarboxylase synthetase deficiency","reviewed":"2020-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:14.806618+00:00","label":"Causes","pageSha256":"55439f6cf781af1a59739bd78c12bc223d5fad515e1fd681c43e84525024d5c7","sourceUrl":"https://medlineplus.gov/genetics/condition/holocarboxylase-synthetase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/holocarboxylase-synthetase-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Holocarboxylase synthetase deficiency"},"schemaVersion":1}