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Article

Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India.

Brain & development - 1 Jun 2014

Akella Radha Rama Devi, Aoyama Yuka, Mori Chihiro, Lingappa Lokesh, Cariappa Rohit, Fukao Toshiyuki

Abstract excerpt

Beta-ketothiolase deficiency, or mitochondrial acetoacetyl-CoA thiolase (T2) deficiency, is a rare autosomal recessive disorder affecting isoleucine catabolism and ketone body metabolism. A patient from South India presented with acute ketoacidosis at 11 months of age. During the acute crisis the...

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PMID: 23958592
DOI: 10.1016/j.braindev.2013.07.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23958592-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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