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The neuropathological correlate is striatal injury which results from encephalopathic crises precipitated by infectious diseases, immunizations and surgery during a finite period of brain development, or develops insidiously without clinically apparent crises. Glutaric aciduria type I is caused by inherited deficiency of glutaryl\u2010CoA dehydrogenase which is involved in the catabolic pathways of L\u2010lysine, L\u2010hydroxylysine and L\u2010tryptophan. This defect gives rise to elevated glutaric acid, 3\u2010hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography\/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. However, initiation of treatment after the onset of symptoms is generally not effective in preventing permanent damage. Secondary dystonia is often difficult to treat, and the efficacy of available drugs cannot be predicted precisely in individual patients. The major aim of this revision is to re\u2010evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline.<\/jats:p>","DOI":"10.1007\/s10545-011-9289-5","type":"journal-article","created":{"date-parts":[[2011,3,22]],"date-time":"2011-03-22T09:08:27Z","timestamp":1300784907000},"page":"677-694","source":"Crossref","is-referenced-by-count":278,"title":["Diagnosis and management of glutaric aciduria type I \u2013 revised recommendations"],"prefix":"10.1002","volume":"34","author":[{"given":"Stefan","family":"K\u00f6lker","sequence":"first","affiliation":[{"name":"Department of General Pediatrics, Division of Inborn Metabolic Diseases University Children's Hospital Im Neuenheimer Feld 430 Heidelberg 69120 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernst","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet 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