Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS)
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Dehua Zhao
Abstract
Background
Alterations in the structure and activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) are causally related to two different metabolic disorders: recessively inherited tyrosinemia type III and dominantly inherited hawkinsinuria. The aim of this study was to provide a new perspective for the clinical understanding of the pathogenesis of tyrosinemia type III or hawkinsinuria.
Case presentation
A full-term newborn baby born after a safe pregnancy and childbirth with a birth weight of 3200 g and another full-term baby born after a safe pregnancy and childbirth with a birth weight of 2800 g are reported and analysed. DNA extraction, next-generation sequencing, bioinformatics analysis, Sanger sequencing and biochemical analysis were performed. One patient with a heterozygous HPD gene (NM_002150.2) c.460G > A mutation and one patient with a heterozygous HPD gene (NM_002150.2) c.248delG mutation showing elevated tyrosine levels upon newborn screening by tandem mass spectrometry (MS/MS) are reported.
Conclusions
The HPD gene may not be a strictly autosomal recessive pathogenic gene, which provides a new perspective for the clinical understanding of the pathogenesis of tyrosinemia type III or hawkinsinuria.
Author contributions: Dehua Zhao was involved in the overall design. Yuan Tian participated in next-generation sequencing experiments and experimental data analysis. Xiaole Li participated in the follow-up analysis. Min Ni was involved in the MS/MS experiments and experimental data analysis. Xinyun Zhu participated in the follow-up analysis. Liting Jia is the corresponding author of the manuscript.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
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.
Ethical statement: All the authors listed in the manuscript have agreed regarding authorship, read and approved the manuscript, and given consent for submission and subsequent publication of the manuscript. The order of authorship was agreed upon by all named authors prior to submission.
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- Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS)
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Articles in the same Issue
- Frontmatter
- Review
- Prevalence of obesity and overweight in Iranian students: a systematic review and meta-analysis
- Original Articles
- Trends in pediatric obesity management, a survey from the Pediatric Endocrine Society Obesity Committee
- Utility of MR proton density fat fraction and its correlation with ultrasonography and biochemical markers in nonalcoholic fatty liver disease in overweight adolescents
- Vitamin D status and its relation to insulin resistance in a Mexican pediatric population
- Elevated serum uric acid, hyperuricaemia and dietary patterns among adolescents in mainland China
- Is there a relationship between the dietary inflammatory index and metabolic syndrome among adolescents?
- New insights into the expression of androgen and estrogen receptors of the appendix testis in congenital cryptorchidism
- General properties of autoimmune thyroid diseases and associated morbidities
- Comparison of leptin levels in neonates born to mothers with high or low gestational weight gain
- Percentile values of serum zinc concentration and prevalence of its deficiency in Iranian children and adolescents: the CASPIAN-V study
- Nine-year overview of dyslipidemia management in children with heterozygous familial hypercholesterolemia: a university hospital outpatient lipid clinic project in Northwestern Greece
- Gesell Developmental Schedules scores and the relevant factors in children with Down syndrome
- Letters to the Editor
- Society for Pediatric Radiology (SPR) Child Abuse Committee response regarding Miller, Stolfi and Ayoub’s flawed theories about child abuse and metabolic bone disease
- Reply of Miller and Ayoub to Brown et al. Letter to the Editor
- Case Reports
- Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families
- Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route
- Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS)
- Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency
- Autoimmune polyglandular syndrome type II with co-manifestation of Addison’s and Graves’ disease in a 15-year-old boy: case report and literature review
