Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency

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MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.

Three patients with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency were examined with MR imaging and proton MR spectroscopy. In two patients, both clinically normal, MR images showed a diffuse mild abnormality in signal intensity of the cerebral white matter, with multiple foci of more pronounced signal abnormality superimposed. In the third patient, who was clinically retarded and had ...

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A patient with 3-hydroxy-3-methylglutaryl-CoA lyase (HMG-CoA lyase, EC 4.1.3.4) deficiency presented consistently above-normal values of plasma amylase (EC 3.2.1.1). Activities measured were in the lower normal range in family members not proven heterozygotes and in the upper normal range in the proven heterozygotes. Heterozygosity was proven by intermediate HMG-CoA lyase activities determined ...

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3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria.

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL, E.C. 4.1.3.4) has a unique dual localization in both mitochondria and peroxisomes. Mitochondrial HL ( approximately 31.0 kDa) catalyzes the last step of ketogenesis; the function of peroxisomal HL ( approximately 33.5 kDa) is unknown. On density gradient fractionation, normal human lymphoblasts contain both peroxisomal and mitochondrial HL wherea...

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ژورنال

عنوان ژورنال: Journal of Inborn Errors of Metabolism and Screening

سال: 2018

ISSN: 2326-4098,2326-4594

DOI: 10.1177/2326409818797361