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

• मुख्य लेखकों: Kavinda Chandimal Dayasiri (लेखक), Nayani Suraweera (लेखक), Deepal Nawarathne (लेखक), U. E. Senanayake (लेखक), B. K. T. P. Dayanath (लेखक), Eresha Jasinge (लेखक), Kumudu Weerasekara (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...