Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study.
10.7499/j.issn.1008-8830.2211062
- Author:
Ke-Yao LI
1
;
Jian-Ping TANG
1
;
Yan-Ling JIANG
1
;
Shu-Zhen YUE
1
;
Bin ZHOU
1
;
Rong WEN
1
;
Ze-Tao ZHOU
;
Zhu WEI
1
Author Information
1. Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China.
- Publication Type:Journal Article
- Keywords:
Biotinidase deficiency;
Child;
HLCS gene;
Holocarboxylase synthetase deficiency;
Multiple carboxylase deficiency
- MeSH:
Humans;
Male;
Biotin/therapeutic use*;
Holocarboxylase Synthetase Deficiency/drug therapy*;
Homozygote;
Mutation;
Rare Diseases/drug therapy*;
Infant
- From:
Chinese Journal of Contemporary Pediatrics
2023;25(4):401-407
- CountryChina
- Language:Chinese
-
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.
