Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report
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DOI: 10.12998/wjcc.v9.i30.9276
Abstract: BACKGROUND β-ketothiolase deficiency (β-KTD) is an inherited disease, and insufficient attention has been paid to imageology due to its lower morbidity. Therefore, few lesions outside the basal ganglia have been found before, and the persistent… read more here.
Keywords: lesions outside; basal; case; outside basal ... See more keywords
A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature
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DOI: 10.22037/ijcn.v12i3.16645
Abstract: Beta-ketothiolase deficiency is a rare autosomal recessive disorder characterized by an inborn error of isoleucine catabolism and affecting ketone body metabolism. Clinical features characterized by intermittent keto acidotic episodes are associated with clinical signs and… read more here.
Keywords: beta ketothiolase; mutation; ketothiolase deficiency;
Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China
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DOI: 10.3389/fgene.2019.00451
Abstract: Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase. Beginning in 2014, we carried out newborn screening by tandem mass spectrometry (MS/MS) followed by next-generation sequencing (NGS) and… read more here.
Keywords: two infants; beta ketothiolase; newborn screening; ketothiolase deficiency ... See more keywords