Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 401-407, 2023.
Article
em Zh
| WPRIM
| ID: wpr-981970
Biblioteca responsável:
WPRO
ABSTRACT
A boy, aged 16 months, attended the hospital due to head and facial erythema for 15 months and vulva erythema for 10 months with aggravation for 5 days. The boy developed perioral and periocular erythema in the neonatal period and had erythema and papules with desquamation and erosion in the neck, armpit, and trigone of vulva in infancy. Blood gas analysis showed metabolic acidosis; the analysis of amino acid and acylcarnitine profiles for inherited metabolic diseases and the analysis of organic acid in urine suggested multiple carboxylase deficiency; genetic testing showed a homozygous mutation of c.1522C>T(p.R508W) in the HLCS gene. Finally the boy was diagnosed with holocarboxylase synthetase deficiency and achieved a good clinical outcome after oral biotin treatment. This article analyzes the clinical data of a child with holocarboxylase synthetase deficiency and summarizes the etiology, diagnosis, and treatment of this child, so as to provide ideas for clinicians to diagnose this rare disease.
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Texto completo:
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Índice:
WPRIM
Assunto principal:
Biotina
/
Deficiência de Holocarboxilase Sintetase
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Doenças Raras
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Homozigoto
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Mutação
Limite:
Humans
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Infant
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Male
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2023
Tipo de documento:
Article