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
exaly +5 more sources
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
openaire +2 more sources
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
doaj +2 more sources
Compensatory activity of the PC-ME1 metabolic axis underlies differential sensitivity to mitochondrial complex I inhibition [PDF]
Nature CommunicationsDeficiencies in the electron transport chain (ETC) lead to mitochondrial diseases. While mutations are distributed across the organism, cell and tissue sensitivity to ETC disruption varies, and the molecular mechanisms underlying this variability remain ...
Lucia del Prado +12 more
doaj +2 more sources
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
Mitochondrial Dysfunction in Propionic Acidemia: A Case-Report and Review of the Literature. [PDF]
JIMD RepWalther BK +5 more
europepmc +1 more source
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency. [PDF]
JIMD RepManoy S +10 more
europepmc +1 more source