Multimodal Metabolomic Analysis Reveals Novel Metabolic Disturbances in Adults With Early Treated Phenylketonuria. [PDF]
JIMD RepABSTRACT Phenylketonuria (PKU) is an inborn error of metabolism responsible for an accumulation of phenylalanine, which leads to cognitive and developmental disorders if left untreated. Most studies of adult PKU focus on neuropsychiatric complications, but new questions have been raised about systemic manifestations of PKU in adulthood.
Dos Santos Y +7 more
europepmc +2 more sources
Adapted Milwaukee protocol for rabies treatment in a Brazilian indigenous child: case report [PDF]
Virology JournalBackground This case report describes the treatment of a 12-year-old indigenous Brazilian girl from the Maxakali group with rabies using the adapted Milwaukee Protocol.
Dilceu Silveira Tolentino Júnior +2 more
doaj +2 more sources
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings. [PDF]
Mol Genet Metab Rep, 2023 Background: DNAJC12 co-chaperone protein deficiency has been recently described as a stand-alone metabolic disorder explaining many cases of mild hyperphenylalaninemia (HPA) that are not caused by variants in the PAH gene, which encodes for the hepatic ...
Fino E +4 more
europepmc +3 more sources
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose [PDF]
, 2017 Background: Phenylketonuria (PKU) often requires a lifelong phenylalanine (Phe)-restricted diet. Introduction of 6R-tetrahydrobiopterin (BH4) has made a huge difference in the diets of patients with PKU.
Bulut, FD +4 more
core +3 more sources
Navigating social determinants of health barriers in the management of phenylketonuria [PDF]
Molecular Genetics and Metabolism ReportsPhenylketonuria (PKU) is an inborn error of amino acid metabolism that is typically identified by newborn screening. With lifelong treatment consisting of dietary management, frequent laboratory monitoring, and regular metabolic clinic visits, patients ...
Ashley Andrews, Kate McMinimee
doaj +2 more sources
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria [PDF]
Molecular Genetics and Metabolism, 2010 Sapropterin dihydrochloride, a synthetic, stable form of the tetrahydrobiopterin cofactor of phenylalanine hydroxylase, has been shown to reduce plasma phenylalanine (Phe) levels in a significant portion of patients with phenylketonuria (PKU). When we undertook introducing this medication to our PKU clinic population, the challenges of recalling and ...
Hilary J. Vernon +4 more
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Recommendations for the use of sapropterin in phenylketonuria
Molecular Genetics and Metabolism, 2012 Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. Until recently, the only treatment for PKU was a Phe-restricted diet. Increasing evidence of suboptimal outcomes in diet-treated individuals, inconsistent PKU management practices, and the recent availability of tetrahydrobiopterin (BH(4)) therapy have fueled the need for
Amy Cunningham +16 more
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Sapropterin in the Treatment of Phenylketonuria [PDF]
Clinical Medicine Insights: Therapeutics, 2010 Sapropterin has recently been approved to treat hyperphenylalaninaemia in patients over 4 year-old with tetrahydrobiopterin (BH4)-responsive phenylketonuria (PKU) and in children and adults with BH4 deficiency. 1 The effectiveness of this treatment in BH4-responsive PKU patients has already been demonstrated in randomized, double-blind trials; 2 ...
François Feillet +1 more
openalex +3 more sources
Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children [PDF]
HeliyonBackground: Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninemia (HPA). The incidence of this condition varies based on region and ethnicity.
Shuyao Zhu +13 more
doaj +2 more sources
Sapropterin dihydrochloride for phenylketonuria [PDF]
Cochrane Database of Systematic Reviews, 2015 Phenylketonuria results from a deficiency of the enzyme phenylalanine hydroxylase. Dietary restriction of phenylalanine keeps blood phenylalanine concentration low. Most natural foods are excluded from diet and supplements are used to supply other nutrients.
Usha Rani Somaraju, Marcus P. Merrin
openalex +6 more sources