Results 1 to 10 of about 13,382 (149)
92 A GLYCOGEN STORAGE DISEASE TYPE I AND III(GSDI, III) AND PYRUVATE CARBOXYLASE DEFICIENCY (PCD): NOCTURNAL GASTRIC DRIP FEEDING VERSUS ADMINISTRATION OF UNCOOKED CORN STARCH! [PDF]
Pediatric Research, 1986 In three patients with GSD I, three with GSD III and one with PCD (age 4-20 y) nocturnal drip feeding (duration 2-8 y) was replaced by administration of uncooked corn starch in curd. To reach comparable serum glucose levels over night and in the morning (70-100 mg/dl) as during drip feeding, the starch had to be given 1-2 × per night.
K Ullrich, A Van Teeflen-Heithoff
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Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's Disease [PDF]
Pediatric Research, 1979 A child with lactic acidosis, severe mental and developmental retardation, and proximal renal tubular acidosis is presented. Biopsy and autopsy studies show severe hepatic, renal cortical, and cerebral deficiencies in pyruvate carboxylase (EC 6.4.1.1) activity. The patient had 1.81 +/- 0.20 units/g fresh weight at biopsy and 0.75 +/- 0.07 units/g fresh
B M, Atkin +4 more
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Deletion of Pyruvate Carboxylase in Tubular Epithelial Cell Promotes Renal Fibrosis by Regulating SQOR/cGAS/STING‐Mediated Glycolysis [PDF]
Advanced ScienceRenal fibrosis is a common pathway involved in the progression of various chronic kidney diseases to end‐stage renal disease. Recent studies show that mitochondrial injury of renal tubular epithelial cells (RTECs) is a crucial pathological foundation for
Hao Huang +14 more
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Biotin - facts and hopes [PDF]
Farmacja Polska, 2022 Biotin is a vitamin known since the 1930s, a substance necessary for the operation of several enzymes: pyruvate carboxylase, propionyl-CoA carboxylase; β-methylcrossonyl-CoA carboxylase, and acetyl CoA carboxylase.
Aleksandra Kowalska +2 more
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A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.
Acta Medica Iranica, 2021 Pyruvate carboxylase deficiency (PCD) is a rare autosomal recessive defect in a biotin-containing enzyme, Pyruvate carboxylase, which is considered as an enzyme of TCA-cycle regulation, gluconeogenesis, lipogenesis, and biosynthesis of neurotransmitters.
shahin koohmanaee +7 more
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Stem Cell Research, 2023 Pyruvate carboxylase (PC) deficiency (PCD), due to biallelic PC variants, is a rare inherited metabolic disease, which is characterized by seizures, global developmental delay, as well as lactic acidosis, and elevated plasma pyruvate and alanine levels ...
Jingjing Sun, Pei Lu, Yunlin Shen, Li Ma
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Frontiers in Pediatrics, 2022 BackgroundPyruvate carboxylase deficiency (PCD; MIM#266150) is a rare autosomal recessive disorder characterized by a wide range of clinical features, including delayed neurodevelopment, elevated pyruvate levels, lactic acidosis, elevated ketone levels ...
DongYing Tao +6 more
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Exclusive neuronal expression of SUCLA2 in the human brain [PDF]
, 2013 SUCLA2 encodes the ATP-forming subunit (A-SUCL-) of succinyl-CoA ligase, an enzyme of the citric acid cycle. Mutations in SUCLA2 lead to a mitochondrial disorder manifesting as encephalomyopathy with dystonia, deafness and lesions in the basal ganglia ...
A Kowluru +55 more
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Astrocyte glutamine synthetase : pivotal in health and disease [PDF]
, 2013 The multifunctional properties of astrocytes signify their importance in brain physiology and neurological function. In addition to defining the brain architecture, astrocytes are primary elements of brain ion, pH and neurotransmitter homoeostasis.
Parpura, Vladimir +2 more
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Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]
, 2014 The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia +2 more
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