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Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.
J Inherit Metab Dis 1993; 16(1):46-54JI

Abstract

A review is presented of 22 published cases of verified or probable mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency, a disorder of isoleucine and ketone body metabolism. The clinical expression, characterized by ketoacidosis, vomiting and lethargy, is highly variable. Typical age of onset is between 6 and 24 months. The disorder, which has been observed in several ethnic groups, is apparently inherited as an autosomal, recessive trait. The prognosis is relatively good if acute episodes of ketoacidosis and dehydration are adequately treated. There is abnormal urinary excretion of 2-methyl-3-hydroxybutyric acid, tiglylglycine, and in some instances also 2-methyl-acetoacetic acid. However, such a pattern of organic aciduria has also been found in cases with normal thiolase activity. Genetic complementation analyses have demonstrated considerable heterogeneity. The cDNA for human methyl-acetoacetyl-CoA thiolase has been cloned and sequenced. Studies in one patient showed a G-to-A substitution at position 1138 of the mRNA, causing 347Ala to Thr change in the mature enzyme. Studies in other patients have shown variable enzyme amount and/or stability.

Authors+Show Affiliations

Department of Pediatrics, University of Bergen, Haukeland Hospital, Norway.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

8487503

Citation

Søvik, O. "Mitochondrial 2-methylacetoacetyl-CoA Thiolase Deficiency: an Inborn Error of Isoleucine and Ketone Body Metabolism." Journal of Inherited Metabolic Disease, vol. 16, no. 1, 1993, pp. 46-54.
Søvik O. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism. J Inherit Metab Dis. 1993;16(1):46-54.
Søvik, O. (1993). Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism. Journal of Inherited Metabolic Disease, 16(1), pp. 46-54.
Søvik O. Mitochondrial 2-methylacetoacetyl-CoA Thiolase Deficiency: an Inborn Error of Isoleucine and Ketone Body Metabolism. J Inherit Metab Dis. 1993;16(1):46-54. PubMed PMID: 8487503.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism. A1 - Søvik,O, PY - 1993/1/1/pubmed PY - 1993/1/1/medline PY - 1993/1/1/entrez SP - 46 EP - 54 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 16 IS - 1 N2 - A review is presented of 22 published cases of verified or probable mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency, a disorder of isoleucine and ketone body metabolism. The clinical expression, characterized by ketoacidosis, vomiting and lethargy, is highly variable. Typical age of onset is between 6 and 24 months. The disorder, which has been observed in several ethnic groups, is apparently inherited as an autosomal, recessive trait. The prognosis is relatively good if acute episodes of ketoacidosis and dehydration are adequately treated. There is abnormal urinary excretion of 2-methyl-3-hydroxybutyric acid, tiglylglycine, and in some instances also 2-methyl-acetoacetic acid. However, such a pattern of organic aciduria has also been found in cases with normal thiolase activity. Genetic complementation analyses have demonstrated considerable heterogeneity. The cDNA for human methyl-acetoacetyl-CoA thiolase has been cloned and sequenced. Studies in one patient showed a G-to-A substitution at position 1138 of the mRNA, causing 347Ala to Thr change in the mature enzyme. Studies in other patients have shown variable enzyme amount and/or stability. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/8487503/Mitochondrial_2_methylacetoacetyl_CoA_thiolase_deficiency:_an_inborn_error_of_isoleucine_and_ketone_body_metabolism_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=1993&volume=16&issue=1&spage=46 DB - PRIME DP - Unbound Medicine ER -