Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review
-
Hsin-Ru Wu
,
Kuan-Jung Chen
und
Mei-Chyn Chao
Abstract
Objectives
Holocarboxylase 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 presentation
Patient 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.
Conclusions
HCSD 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.
Research funding: None declared.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication. The authors stated that they have no conflicts of interest regarding the publication of this article.
Ethical approval: Written informed consent was obtained from the patient and parents for the publication of this case report.
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Supplementary Material
The online version of this article offers supplementary material https://doi.org/10.1515/jpem-2020-0106.
© 2020 Walter de Gruyter GmbH, Berlin/Boston
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Artikel in diesem Heft
- Frontmatter
- Review Article
- The influence of growth hormone therapy on the cardiovascular system in Turner syndrome
- Original Articles
- Clinical utility of urinary gonadotrophins in hypergonadotrophic states as Turner syndrome
- Sclerostin and osteoprotegerin: new markers of chronic kidney disease mediated mineral and bone disease in children
- Monthly intravenous alendronate treatment can maintain bone strength in osteogenesis imperfecta patients following cyclical pamidronate treatment
- Mechanisms and early patterns of dyslipidemia in pediatric type 1 and type 2 diabetes
- Frequency of thyroid dysfunction in pediatric patients with congenital heart disease exposed to iodinated contrast media – a long-term observational study
- Effect of growth hormone therapy on thyroid function in isolated growth hormone deficient and short small for gestational age children: a two-year study, including on assessment of the usefulness of the thyrotropin-releasing hormone (TRH) stimulation test
- Clinical relevance of T lymphocyte subsets in pediatric Graves’ disease
- Long-term follow-up of differentiated thyroid carcinoma in children and adolescents
- A quality improvement project for managing hypocalcemia after pediatric total thyroidectomy
- Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil
- Clinical characteristics, surgical approach, BRAFV600E mutation and sodium iodine symporter expression in pediatric patients with thyroid carcinoma
- BRAFV600E and TERT promoter mutations in paediatric and young adult papillary thyroid cancer and clinicopathological correlation
- Case Reports
- Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence
- Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review
- Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature
- Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism
- Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures
