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

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

Abstract Background Tetrahydrobiopterin (BH4) 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 BH4 synthesis which exists in recessive and domina...

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Bibliographic Details
Main Authors: Kavinda Chandimal Dayasiri, Nayani Suraweera, Deepal Nawarathne, U. E. Senanayake, B. K. T. P. Dayanath, Eresha Jasinge, Kumudu Weerasekara
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Pediatrics
Subjects:
GTPCH deficiency
Recurrent hyperthermia
South Asian child
Online Access:http://link.springer.com/article/10.1186/s12887-019-1580-x

Internet

http://link.springer.com/article/10.1186/s12887-019-1580-x

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