Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 129-135, 2022.
Article
in English
| WPRIM
| ID: wpr-928659
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Biotin
/
Multiple Carboxylase Deficiency
/
Neonatal Screening
/
Carbon-Nitrogen Ligases
/
Biotinidase Deficiency
/
Holocarboxylase Synthetase Deficiency
/
Consensus
Type of study:
Diagnostic study
/
Practice guideline
/
Screening study
Limits:
Humans
/
Infant, Newborn
Language:
English
Journal:
Journal of Zhejiang University. Medical sciences
Year:
2022
Type:
Article
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