Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy.

Autor:	Mohideen SB; Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.; Department of Chemical Pathology, Medical Research Institute, Colombo, Sri Lanka., Fernando PMS; Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka., Beetz C; Centogene GmbH, Rostock, Germany., Schroder S; Centogene GmbH, Rostock, Germany., Pereira C; Centogene GmbH, Rostock, Germany., Gunatilleke S; Neonatology Unit, Provincial General Hospital, Badulla, Sri Lanka., Rathnayake P; Department of Pediatric Neurology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka., Jasinge E; Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
Jazyk:	angličtina
Zdroj:	Laboratory medicine [Lab Med] 2024 Aug 10. Date of Electronic Publication: 2024 Aug 10.
DOI:	10.1093/labmed/lmae058
Abstrakt:	We report on a male patient who was investigated for frequent apneic episodes, feeding problems, hypotonia, and left-sided middle cerebral artery infarction in the magnetic resonance imaging at 2 weeks of age. Primary diagnosis of dihydropyrimidinase (DPYS) deficiency was suspected following the analysis of urine for organic acid; DPYS deficiency was strongly suggested by the presence of dihydrouracil, thymine, and uracil. Subsequent genetic evaluation by whole exome sequencing revealed 2 separate mutations, homozygous pathogenic variant c.1010T>C p.Leu337Pro of the DPYS gene, resulting in DPYS deficiency, and homozygous pathogenic variant c.535C>T p.Arg179* of TBX19 gene, which is associated with autosomal recessive congenital isolated adrenocorticotrophic hormone deficiency. Currently, the patient is 2 years old, and he has gross motor retardation and seizure disorder. We suggest that the clinical phenotype of the proband can be a result of mixed expression of both mutations. (© The Author(s) 2024. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)
Databáze:	MEDLINE
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