GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child – a case report

BACKGROUND: Tetrahydrobiopterin (BH(4)) deficiencies are disorders affecting phenylalanine homeostasis, and catecholamine and serotonin biosynthesis. GTP-Cyclohydrolase I deficiency (OMIM 600225) is an extremely rare variant of inborn error of BH(4) synthesis which exists in recessive and dominant f...

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Detalles Bibliográficos
Autores principales: Dayasiri, Kavinda Chandimal, Suraweera, Nayani, Nawarathne, Deepal, Senanayake, U. E., Dayanath, B. K. T. P., Jasinge, Eresha, Weerasekara, Kumudu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6570886/
https://www.ncbi.nlm.nih.gov/pubmed/31202265
http://dx.doi.org/10.1186/s12887-019-1580-x

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