Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.

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 gene

SUBMITTER: Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association 

PROVIDER: S-EPMC9109762 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature