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

Tetrahydrobiopterin (BH4) deficiencies are disorders affecting phenylalanine homeostasis, and catecholamine and serotonin biosynthesis. GTP-Cyclohydrolase I deficiency (OMIM 600225) is an extremely rare variant o...

Source: BMC Pediatrics - June 15, 2019 Category: Pediatrics Authors: Kavinda Chandimal Dayasiri, Nayani Suraweera, Deepal Nawarathne, U. E. Senanayake, B. K. T. P. Dayanath, Eresha Jasinge and Kumudu Weerasekara Tags: Case report Source Type: research