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Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency.
Pediatr Res. 1998 Sep; 44(3):392-6.PR

Abstract

There are at least two isoenzymes of 3-hydroxy-3-methylglutaryl (HMG)-CoA synthase (EC 4.1.3.5) located in the mitochondrial matrix and the cytoplasm of hepatocytes, respectively. The mitochondrial enzyme is necessary for the synthesis of ketone bodies, which are important fuels during fasting. We report a child with a deficiency of this isoenzyme. He presented at 16 mo with hypoglycemia. There was no rise in ketone bodies during fasting or after a long chain fat load but there was a small rise after a leucine load. Measurement of beta-oxidation flux in fibroblasts was normal. Using antibodies specific for mitochondrial HMG-CoA synthase, no immunoreactive material could be detected on Western blotting. Total HMG-CoA synthase activity in liver homogenate was only slightly lower than in control samples. Presumably, as there was no mitochondrial HMG-CoA synthase enzyme protein, this activity arose from the cytoplasmic or other (e.g. peroxisomal) isoenzymes. With avoidance of fasting, our patient has had no problems since presentation and is developing normally at 4 y of age.

Authors+Show Affiliations

Metabolic Unit, Institute of Child Health, London, United Kingdom.No 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

9727719

Citation

Morris, A A., et al. "Hepatic Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a Synthase Deficiency." Pediatric Research, vol. 44, no. 3, 1998, pp. 392-6.
Morris AA, Lascelles CV, Olpin SE, et al. Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency. Pediatr Res. 1998;44(3):392-6.
Morris, A. A., Lascelles, C. V., Olpin, S. E., Lake, B. D., Leonard, J. V., & Quant, P. A. (1998). Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency. Pediatric Research, 44(3), 392-6.
Morris AA, et al. Hepatic Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a Synthase Deficiency. Pediatr Res. 1998;44(3):392-6. PubMed PMID: 9727719.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency. AU - Morris,A A, AU - Lascelles,C V, AU - Olpin,S E, AU - Lake,B D, AU - Leonard,J V, AU - Quant,P A, PY - 1998/9/4/pubmed PY - 1998/9/4/medline PY - 1998/9/4/entrez SP - 392 EP - 6 JF - Pediatric research JO - Pediatr Res VL - 44 IS - 3 N2 - There are at least two isoenzymes of 3-hydroxy-3-methylglutaryl (HMG)-CoA synthase (EC 4.1.3.5) located in the mitochondrial matrix and the cytoplasm of hepatocytes, respectively. The mitochondrial enzyme is necessary for the synthesis of ketone bodies, which are important fuels during fasting. We report a child with a deficiency of this isoenzyme. He presented at 16 mo with hypoglycemia. There was no rise in ketone bodies during fasting or after a long chain fat load but there was a small rise after a leucine load. Measurement of beta-oxidation flux in fibroblasts was normal. Using antibodies specific for mitochondrial HMG-CoA synthase, no immunoreactive material could be detected on Western blotting. Total HMG-CoA synthase activity in liver homogenate was only slightly lower than in control samples. Presumably, as there was no mitochondrial HMG-CoA synthase enzyme protein, this activity arose from the cytoplasmic or other (e.g. peroxisomal) isoenzymes. With avoidance of fasting, our patient has had no problems since presentation and is developing normally at 4 y of age. SN - 0031-3998 UR - https://www.unboundmedicine.com/medline/citation/9727719/Hepatic_mitochondrial_3_hydroxy_3_methylglutaryl_coenzyme_a_synthase_deficiency_ L2 - https://doi.org/10.1203/00006450-199809000-00021 DB - PRIME DP - Unbound Medicine ER -