Publications by authors named "Rayyan Albarakati"
Article Synopsis
- - PKU is a genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase, leading to high levels of phenylalanine in the blood; pegvaliase (PALYNZIQ®) has been approved for treating adults with uncontrolled Phe levels above 600 micromol/L, but its effects on children under 16 are not well-studied.
- - A case study of a 12-year-old Saudi girl who received pegvaliase therapy showed significant improvement in her blood Phe levels after six months, allowing her to maintain a normal diet without restrictions while keeping her Phe levels stable.
- - The findings suggest pegvaliase may be safe and effective for children with PKU, highlighting
In this report, we present the case of a Saudi baby boy with a rare de novo interstitial deletion of chromosome 2q14.1-q22.1.
View Article and Find Full Text PDFLeukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They are individually rare, but collectively, they are common. Thirty disorders were included by the Global Leukodystrophy Initiative Consortium (GLIA) as LDs.
View Article and Find Full Text PDF