Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
نویسندگان
چکیده
منابع مشابه
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 ...
متن کاملCT and MR of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
Siblings with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency were evaluated with CT and MR. Both imaging studies demonstrated a leukodystrophy with preferential involvement of the deeper arcuate fibers.
متن کاملIdentification of 3-methylglutarylcarnitine. A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A (CoA) lyase affects the metabolism of leucine as well as ketogenesis. This disorder is one of an increasing list of inborn errors of metabolism that presents clinically like Reye's Syndrome or nonketotic hypoglycemia. Four patients with proven 3-hydroxy-3-methylglutaryl-CoA lyase deficiency were shown to excrete a new diagnostically specific m...
متن کاملIncreased plasma amylase in the family of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
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 ...
متن کامل3-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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Inborn Errors of Metabolism and Screening
سال: 2018
ISSN: 2326-4098,2326-4594
DOI: 10.1177/2326409818797361