Titlebook: JIMD Reports, Volume 40; Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Errors of Metabolism (SSI

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Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria,–30% of PKU patients, Phe levels may be controlled by tetrahydrobiopterin (BH4) therapy. The European PKU 2017 Guidelines recommends treatment with BH4 for cases of proven long-term BH4 responsiveness, with a recommended dosage of Sapropterin 10–20?mg/kg/day..We report four young Irish patients with

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Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Dcle, classically characterized by encephalopathy, profound psychomotor retardation, seizures, a spectrum of brain abnormalities and early death in childhood. Less common milder phenotypes with moderate cognitive impairment and long-term survival have been reported. In addition, heterozygous mutation

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Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in subsequent accumulation of the amino acids lysine, hydroxylysine, and tryptophan and their breakdown intermediates can be neurotoxic and particularly cause injury to the basal ganglia..Roughly 1 of 100,000 infants is affected with GA-1, and a common feature at birth is macrocephaly. Stress, such as

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Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Followinlohexanedione (NTBC) and correlate these with functional imaging as well as with tyrosine and phenylalanine-tyrosine (Phe:Tyr) ratios..: We retrospectively reviewed the medical records of three adult HT-1 patients with a particular focus on their FDG PET/CT brain scans, neuropsychiatric assessment (

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Wienke H. Galama,Sandra L. J. Verhaagen – van den Akker,Dirk J. Lefeber,Ilse Feenstra,Aad Verripsrse oligosaccharides that contain lactose at their reducing ends. By contrast, monotremes and marsupials—mammalian lineages that diverged from the lineage that led to eutherians about 190 and 160 million years ago, respectively—produce milk in which diverse oligosaccharides predominate and lactose i

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