| Literature DB >> 35576117 |
Division of Biochemistry and Metabolism, Medical Genetics Branch Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch Chinese Association for Maternal and Child Health, Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association.
Abstract
Multiple carboxylase deficiency (MCD) includes autosomal recessive holocarboxylase synthetase (HLCS) deficiency and biotinidase (BTD) deficiency, which are caused by and gene mutations respectively. Neonatal screening for HLCS deficiency is based on 3-hydroxyisovaleryl carnitine in dry blood filter paper, and BTD deficiency is based on BTD activity determination. HLCS deficiency and BTD deficiency are characterized by neurocutaneous syndrome and organic aciduria, however, they are different in onset age, neurological symptoms and metabolic decompensation, which needed to be differentiated from acquired biotin deficiency or other genetic metabolic diseases. The diagnosis of the disease requires a combination of biochemical characteristics of hematuria, enzyme activity determination and genetic test. Routine biotin doses are effective for most MCD patients. This consensus is intended to benefit early screening and diagnosis of MCD.Entities:
Keywords: Biotinidase deficiency; Diagnosis and treatment; Expert consensus; Holocarboxylase synthetase deficiency; Multiple carboxylase deficiency; Neonatal screening
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Year: 2022 PMID： 35576117 PMCID： PMC9109762 DOI： 10.3724/zdxbyxb-2022-0164
Source DB: PubMed Journal: Zhejiang Da Xue Xue Bao Yi Xue Ban ISSN： 1008-9292