Affiliation:
1. Changhua Christian Medical Foundation Changhua Christian Hospital, Division of Pediatric Genetics and Metabolism, Changhua, Taiwan
2. Department of Pediatrics, Kaohsiung Medical University Chung Ho Memorial Hospital, Kaohsiung, Taiwan
Abstract
AbstractObjectivesHolocarboxylase synthetase deficiency (HCSD) (OMIM #253270) is a rare inborn error of metabolism with an estimated annual incidence of 1 in 200,000 people. Typical manifestations of HCSD include eczema, alopecia, lactic acidosis and hyperammonemia. Diagnosis is made through genetic analysis.Case presentationPatient 1 was a 7-year-old girl with normal growth and development, presenting with severe hypoglycemia and metabolic acidosis. Her family reported that she was diagnosed as having ketotic hypoglycemia; she had five episodes of hypoglycemia and metabolic acidosis in past 4 years when her oral intake decreased during acute illness. Patient 2 was a 6-month-old female infant with normal growth and development, presenting with progressive generalized eczema and metabolic acidosis for the first time. We found that they both had hyperammonemia, hyperlactatemia, hyperketonemia, organic acids detected in urine and elevated C5OH acylcarnitine level by tandem mass spectrometry. HLCS gene analysis showed a homozygous pathogenic variant p.V363D in patient 1 and a pathogenic variant p.R508W compound with a novel splice site pathogenic variant c.2010-1G>A in patient 2. They have been on biotin treatment (10 mg/day for both of them) for more than 2 years and no more symptoms have occurred.ConclusionsHCSD is a rare disease, and it can be fatal if severe metabolic acidosis occurs without timely management. Once the diagnosis is made, most of the patients with HCSD have good prognosis and normal life expectancy with biotin treatment.
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Reference36 articles.
1. Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation;J Formos Med Assoc,2000
2. Case report of holocarboxylase synthetase deficiency (Late-Onset) in 2 Chinese patients;Medicine (Baltim),2020
3. Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia;J Pediatr,1980
4. Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency;Pediatr Res,1999
5. Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency;Zhongguo Dang Dai Er Ke Za Zhi,2009
Cited by
3 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献