{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:07:27Z","timestamp":1761102447314,"version":"3.40.5"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,11,16]],"date-time":"2020-11-16T00:00:00Z","timestamp":1605484800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 4\u2010year\u2010old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country of birth, India, had not yielded a diagnosis. MRI brain in infancy revealed bilateral putamen hyperintensity. She had generalized dyskinesia predominantly bulbar and limbs. Motor and speech development were most affected with preservation of cognitive development. There was no history of acute encephalopathic crisis or status dystonicus. Initial urine organic acids and amino acids and acylcarnitine profile (ACP) were normal. A dystonia genetic panel showed compound heterozygosity with a pathogenic variant and a variant of uncertain significance in the <jats:italic>GCDH<\/jats:italic> gene. The latter is hitherto undescribed and is indicative of a potential diagnosis of glutaric aciduria type 1 (alternatively glutaric acidemia type 1) (GA\u20101), an autosomal recessive disorder of mitochondrial lysine\/hydroxylysine and tryptophan metabolism. Repeat urine organic acids showed isolated slightly increased 3\u2010hydroxy glutarate excretion consistent with GA\u20101 and characterizing the patient as a \u201clow excretor,\u201d a diagnostic sub\u2010group where diagnosis is more challenging but prognosis is similar. Repeat MRI Brain at age 4 showed volume loss and symmetric T2 hyperintensity in the posterior putamina bilaterally. This case highlights the diagnostic dilemma of GA\u20101 where differing clinical courses, genetic variants, neuroradiological findings, and biochemical excretion patterns may lead to a later diagnosis. The presence of newborn screening for GA\u20101 should not dull the clinician's suspicion of the possibility that GA\u20101 may present with a complex movement disorder. Timely diagnosis and treatment is essential, as neurological sequelae are largely irreversible.<\/jats:p>","DOI":"10.1002\/jmd2.12187","type":"journal-article","created":{"date-parts":[[2020,11,16]],"date-time":"2020-11-16T23:38:26Z","timestamp":1605569906000},"page":"12-20","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma"],"prefix":"10.1002","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2809-8383","authenticated-orcid":false,"given":"Jason","family":"Foran","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology Cork University Hospital  Cork Republic of Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Radiology Cork University Hospital  Cork 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