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Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes.
Clin Genet 1996; 50(4):263-6CG

Abstract

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inherited metabolic disorder of isoleucine and ketone body catabolism. We report the cases of two siblings who showed clinically mild forms of this disorder. They did not excrete tiglylglycine in urine. Their EB-transformed lymphocytes contained residual T2 activity, which was confirmed by immunotitration analysis. In immunoblot analysis, the bands corresponding to T2 in the samples of the cell lines from two patients were the most intensely detected among those from 19 T2-deficient cell lines tested.

Authors+Show Affiliations

Department of Pediatrics, Gifu University School of Medicine, Japan. toshi-gif@umin.u-tokyo.ac.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

9001814

Citation

Fukao, T, et al. "Mild Form of Beta-ketothiolase Deficiency (mitochondrial acetoacetyl-CoA Thiolase Deficiency) in Two Japanese Siblings: Identification of Detectable Residual Activity and Cross-reactive Material in EB-transformed Lymphocytes." Clinical Genetics, vol. 50, no. 4, 1996, pp. 263-6.
Fukao T, Kodama A, Aoyanagi N, et al. Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes. Clin Genet. 1996;50(4):263-6.
Fukao, T., Kodama, A., Aoyanagi, N., Tsukino, R., Uemura, S., Song, X. Q., ... Kondo, N. (1996). Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes. Clinical Genetics, 50(4), pp. 263-6.
Fukao T, et al. Mild Form of Beta-ketothiolase Deficiency (mitochondrial acetoacetyl-CoA Thiolase Deficiency) in Two Japanese Siblings: Identification of Detectable Residual Activity and Cross-reactive Material in EB-transformed Lymphocytes. Clin Genet. 1996;50(4):263-6. PubMed PMID: 9001814.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes. AU - Fukao,T, AU - Kodama,A, AU - Aoyanagi,N, AU - Tsukino,R, AU - Uemura,S, AU - Song,X Q, AU - Watanebe,H, AU - Kuhara,T, AU - Matsumoto,I, AU - Orii,T, AU - Kondo,N, PY - 1996/10/1/pubmed PY - 1996/10/1/medline PY - 1996/10/1/entrez SP - 263 EP - 6 JF - Clinical genetics JO - Clin. Genet. VL - 50 IS - 4 N2 - Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inherited metabolic disorder of isoleucine and ketone body catabolism. We report the cases of two siblings who showed clinically mild forms of this disorder. They did not excrete tiglylglycine in urine. Their EB-transformed lymphocytes contained residual T2 activity, which was confirmed by immunotitration analysis. In immunoblot analysis, the bands corresponding to T2 in the samples of the cell lines from two patients were the most intensely detected among those from 19 T2-deficient cell lines tested. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/9001814/Mild_form_of_beta_ketothiolase_deficiency__mitochondrial_acetoacetyl_CoA_thiolase_deficiency__in_two_Japanese_siblings:_identification_of_detectable_residual_activity_and_cross_reactive_material_in_EB_transformed_lymphocytes_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1996&volume=50&issue=4&spage=263 DB - PRIME DP - Unbound Medicine ER -