Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management.

IF 1.3 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-10 DOI:10.1515/jpem-2024-0378
Arzu Selamioğlu, Tuğba Kozanoğlu, İlknur Hacıoğlu, Mehmet Cihan Balcı, Meryem Karaca, Asuman Gedikbaşı, Bülent Uyanık, Gülden Gökçay
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引用次数: 0

Abstract

Objectives: Phenylketonuria (PKU) and tyrosinemia type 3 (HT3) are both rare autosomal recessive disorders of phenylalanine-tyrosine metabolism. PKU is caused by a deficiency in phenylalanine hydroxylase (PAH), leading to elevated phenylalanine (Phe) and reduced tyrosine (Tyr) levels. HT3, the rarest form of tyrosinemia, is due to a deficiency in 4-hydroxyphenylpyruvate dioxygenase (HPD).

Case presentation: We report a 5-year-old girl diagnosed with both PKU and HT3. She presented with elevated Phe levels in neonatal screening, and subsequent biochemical tests revealed both hyperphenylalaninemia and elevated Tyr levels. Genetic analysis confirmed the diagnoses, identifying homozygous mutations in both the PAH and HPD genes. Dietary management to maintain optimal Phe and Tyr levels proved to be challenging due to the presence of these two coexisting pathologies especially during infections and due to dietary non-compliance, necessitating frequent adjustments in the treatment strategy.

Conclusions: This case highlights the importance of considering multiple metabolic disorders in patients with unexplained clinical and biochemical findings. Early diagnosis and stringent dietary management are crucial for preventing neurological damage and ensuring favorable outcomes in patients with concurrent metabolic disorders.

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来源期刊
CiteScore
2.70
自引率
7.10%
发文量
176
审稿时长
3-6 weeks
期刊介绍: The aim of the Journal of Pediatric Endocrinology and Metabolism (JPEM) is to diffuse speedily new medical information by publishing clinical investigations in pediatric endocrinology and basic research from all over the world. JPEM is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology in its broadest sense, which is needed at this time of rapid expansion of the field of endocrinology. JPEM publishes Reviews, Original Research, Case Reports, Short Communications and Letters to the Editor (including comments on published papers),. JPEM publishes supplements of proceedings and abstracts of pediatric endocrinology and diabetes society meetings.
期刊最新文献
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