{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T20:09:03Z","timestamp":1762459743372},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,5,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Pyruvate dehydrogenase complex deficiency (PDCD) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. Structural brain abnormalities are common in PDCD. A case of a patient with PDCD with an unusual presentation is described. A 20-month-old boy with hypotonia and developmental delay, presented with hypoxia and respiratory distress due to bronchiolitis. During hospitalisation, he was prescribed PediaSure\u00ae feeds. Two days after starting these feeds, he developed respiratory arrest requiring intubation. His blood gas before arrest revealed lactate of 8.9 mmol\/L despite normal haemodynamics. After stabilisation and a period of compulsory fasting, subsequent feeding with PediaSure\u00ae resulted in the recurrence of lactic acidosis. A metabolic workup revealed an elevated serum pyruvate level. Brain MRI was normal. Skeletal muscle biopsy confirmed PDCD. The most common cause of PDCD is a mutation in the X-linked PDHA1 gene. The severity of PDCD can range from neonatal death to more delayed onset of symptoms as in our index case. Normal brain MRI is reported in only 2% of patients with PDCD. There is no effective treatment for PDCD. In patients with proximal muscle weakness and feeding intolerance with glucose-containing feeds, the presence of lactic acidosis should raise the suspicion of PDCD irrespective of the patient's age and normal MRI.<\/jats:p>","DOI":"10.2478\/jccm-2019-0012","type":"journal-article","created":{"date-parts":[[2019,5,14]],"date-time":"2019-05-14T09:31:45Z","timestamp":1557826305000},"page":"71-75","source":"Crossref","is-referenced-by-count":10,"title":["Pyruvate Dehydrogenase Complex Deficiency: An Unusual Cause of Recurrent Lactic Acidosis in a Paediatric Critical Care Unit"],"prefix":"10.2478","volume":"5","author":[{"given":"Neha","family":"Gupta","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Critical Care, University of Alabama at Birmingham , Birmingham , AL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chrystal","family":"Rutledge","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Critical Care, University of Alabama at Birmingham , Birmingham , AL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,5,13]]},"reference":[{"key":"2024041818241772435_j_jccm-2019-0012_ref_001_w2aab2b8c12b1b7b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Patel MS, Nemeria NS, Furey W, Jordan F. 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