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Two siblings with beta-ketothiolase deficiency: one genetic defect two different pictures


Demir Köse, Melis; Canda, Ebru; Kağnıcı, Mehtap; İşgüder, Rana; Ünalp, Aycan; Kalkan Uçar, Sema; Bahr, Luzy; Britschgi, Corinne; Sass, Jörn Oliver; Çoker, Mahmut (2016). Two siblings with beta-ketothiolase deficiency: one genetic defect two different pictures. Journal of Pediatric Research, 3(2):113-116.

Abstract

Deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2 (methylacetoacetyl-coenzyme A thiolase, MAT) or β-ketothiolase is a rareautosomal recessive disorder that is characterized by ketoacidosis episodes. Outcomes vary from normal development to severe cognitive impairment or even death after an acute episode of ketoacidosis. The classical biochemical profile of T2 deficiency is a result of mutations in both alleles of the ACAT1 gene and comprises characteristic abnormalities in urinary organic acids and blood or plasma acylcarnitine profiles. In this study, we present two sibling cases with quite different clinical properties.

Abstract

Deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2 (methylacetoacetyl-coenzyme A thiolase, MAT) or β-ketothiolase is a rareautosomal recessive disorder that is characterized by ketoacidosis episodes. Outcomes vary from normal development to severe cognitive impairment or even death after an acute episode of ketoacidosis. The classical biochemical profile of T2 deficiency is a result of mutations in both alleles of the ACAT1 gene and comprises characteristic abnormalities in urinary organic acids and blood or plasma acylcarnitine profiles. In this study, we present two sibling cases with quite different clinical properties.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2016
Deposited On:12 Jan 2017 08:44
Last Modified:08 Dec 2017 21:50
Publisher:Galenos Publishing House
ISSN:2147-9445
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.4274/jpr.25338

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