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

• Main Authors: Kavinda Chandimal Dayasiri (Author), Nayani Suraweera (Author), Deepal Nawarathne (Author), U. E. Senanayake (Author), B. K. T. P. Dayanath (Author), Eresha Jasinge (Author), Kumudu Weerasekara (Author)
• Format: Knjiga
• Izdano: BMC, 2019-06-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

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...