{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:56:02Z","timestamp":1791899762512,"version":"4.3.4"},"reference-count":46,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,6,26]],"date-time":"2003-06-26T00:00:00Z","timestamp":1056585600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2003,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Time is that wherein there is opportunity, and opportunity is that wherein there is no great time.\u2009\u2026\u2009Healing is a matter of time, but it is also a matter of opportunity.<\/jats:italic><\/jats:p><jats:p>\u2014Hippocrates, <jats:italic>Epidemics<\/jats:italic><\/jats:p><jats:p>Type I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl\u2010CoA dehydrogenase deficiency and is a cause of acute striatal necrosis in infancy. We present detailed clinical, neuroradiologic, molecular, biochemical, and functional data on 77 patients with GA1 representative of a 14\u2010year clinical experience. Micrencephalic macrocephaly at birth is the earliest sign of GA1 and is associated with stretched bridging veins that can be a cause of subdural hematoma and acute retinal hemorrhage. Acute striatal necrosis during infancy is the principal cause of morbidity and mortality and leads to chronic oromotor, gastroesophageal, skeletal, and respiratory complications of dystonia. Injury to the putamen is heralded by abrupt\u2010onset behavioral arrest. Tissue degeneration is stroke\u2010like in pace, radiologic appearance, and irreversibilty. It is uniformly symmetric, regionally selective, confined to children under 18 months of age, and occurs almost always during an infectious illness. Our knowledge of disease mechanisms, though incomplete, is sufficient to allow a rational approach to management of encephalopathic crises. Screening of asymptomatic newborns with GA1 followed by thoughtful prospective care reduces the incidence of radiologically and clinically evident basal ganglia injury from approximately 90% to 35%. Uninjured children have good developmental outcomes and thrive within Amish and non\u2010Amish communities. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.20007","type":"journal-article","created":{"date-parts":[[2003,7,25]],"date-time":"2003-07-25T10:12:54Z","timestamp":1059127974000},"page":"38-52","source":"Crossref","is-referenced-by-count":273,"title":["Type I glutaric aciduria, part 1: Natural history of 77 patients"],"prefix":"10.1002","volume":"121C","author":[{"given":"Kevin A.","family":"Strauss","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik G.","family":"Puffenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna L.","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. 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