FDA approves a new treatment for PKU, a rare and serious genetic disease

The FDA today approved Palynziq (pegvaliase-pqpz) for adults with a rare and serious genetic disease known as phenylketonuria (PKU).
Source: Food and Drug Administration - Category: American Health Source Type: news

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Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
Source: Journal of Pediatric Endocrinology and Metabolism - Category: Endocrinology Source Type: research
ConclusionsOverall, it was agreed that pegvaliase has a generally tolerable safety profile in adults with PKU. Importantly, the risk mitigation strategies utilized in the clinical trials were considered to support the continued use of key strategies for management in the commercial setting, such as a slow induction/titration dosing paradigm and premedication with H1-receptor antagonists. However, physicians and patients need to be aware of the risk of HAEs associated with pegvaliase; presence of a trained observer during early treatment may be beneficial in certain circumstances, and a requirement to carry auto-injectable ...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
asi Andrea Soltysova The molecular genetics of well-characterized inherited diseases, such as phenylketonuria (PKU) and hyperphenylalaninemia (HPA) predominantly caused by mutations in the phenylalanine hydroxylase (PAH) gene, is often complicated by the identification of many novel variants, often with no obvious impact on the associated disorder. To date, more than 1100 PAH variants have been identified of which a substantial portion have unknown clinical significance. In this work, we study the functionality of seven yet uncharacterized PAH missense variants p.Asn167Tyr, p.Thr200Asn, p.Asp229Gly, p.Gly239Ala, p.Ph...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
Source: Journal of Pediatric Endocrinology and Metabolism - Category: Endocrinology Source Type: research
Abstract Protein folding is the process by which a polypeptide chain acquires its functional, native 3D structure. Protein misfolding, on the other hand, is a process in which proteins fails to fold into its native functional conformation. This misfolding of proteins may lead to precipitation of number of serious diseases such as Cystic fibrosis (CF), Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) etc. Protein quality-control (PQC) systems, consisting of molecular chaperones, proteases and regulatory factors, help in protein folding and prevent its aggregation. At the s...
Source: Current Protein and Peptide Science - Category: Biochemistry Authors: Tags: Curr Protein Pept Sci Source Type: research
Phenylalanine hydroxylase (PAH) is a key enzyme in the catabolism of phenylalanine, and mutations in this enzyme cause phenylketonuria (PKU), a genetic disorder that leads to brain damage and mental retardation if untreated. Some patients benefit from supplementation with a synthetic formulation of the cofactor tetrahydrobiopterin (BH4) that partly acts...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
Publication date: Available online 3 June 2019Source: Molecular Genetics and MetabolismAuthor(s): Francesca Nardecchia, Filippo Manti, Sabrina De Leo, Claudia Carducci, Vincenzo LeuzziAbstractBackgroundPhenylketonuria (PKU) is due to the deficit of the enzyme phenylalanine hydroxylase, the first step of dopamine synthesis. If not early treated the disease results in severe neurological impairment. Minor neurological signs have been reported in early treated PKU (ETPKU) subjects. Prolactin level is affected by (and reflects) brain dopamine availability. Object of the study was to assess the occurrence, age at onset, distrib...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
Source: Journal of Pediatric Endocrinology and Metabolism - Category: Endocrinology Source Type: research
ACS Applied Materials&InterfacesDOI: 10.1021/acsami.9b05431
Source: ACS Applied Materials and Interfaces - Category: Materials Science Authors: Source Type: research
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
Source: Journal of Pediatric Endocrinology and Metabolism - Category: Endocrinology Source Type: research
More News: American Health | Food and Drug Administration (FDA) | Genetics | Phenylketonuria