Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm Jean-Marie Saudubray,Matthias R. Baumgartner,John Book 2022Latest edition Springer-Verlag

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Disorders of Creatine Metabolism guanidinoacetate methyltransferase (GAMT, encoded by .) deficiencies), and the X-linked creatine transporter (CRTR, encoded by .) deficiency. They typically present with systemic and/or cerebral creatine deficiency and global developmental delay, cognitive dysfunction or intellectual disability alo

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CRAB

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Disorders of Ketogenesis and Ketolysisress. There are two defects of ketogenesis, 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency and HMG-CoA synthase deficiency. In these, decompensation leads to encephalopathy, with vomiting and a reduced level of consciousness, often accompanied by hepatomegaly. The biochemical features – hypok

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Disorders of Galactose Metabolismcy of galactose-1-phosphate uridylyltransferase (GALT). Classic galactosemia can be life threatening in infancy with multiorgan involvement; long-term developmental and other complications are also common. Partial GALT deficiency ranges from having serious consequences in the newborn period to being

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Disorders of Fructose Metabolismke prompt gastrointestinal discomfort and hypoglycaemia upon ingestion, symptoms that can vary from patient to patient and depend on the ingested dose. Fructose may cause liver and kidney failure when taken persistently and its intake becomes life-threatening when given intravenously. . has recently

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Hyperphenylalaninaemiarreversible catabolism of PHE is hydroxylation to tyrosine (TYR) by PAH. This enzyme requires the active pterin, tetrahydrobiopterin (BH.), which is formed in three steps from guanosine triphosphate (GTP), and DNAJC12 which functions as a co-chaperone with HSP70 for correct folding and stability of

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John H. Walter,Philippe Labrune,Pascal Laforêtciences, Memphis. It is an annual invitational forum created to focus on the improve­ ment of health status in the community, state, nation and world through effective health policies and organizations. As issues of health care become more complex, the Norfleet Forum is expected to serve as a vehicl