acid-phosphatase and Genetic-Diseases--Inborn

Topics: Acid Phosphatase; Adrenal Hyperplasia, Congenital; Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Blood Chemical Analysis; Carbohydrate Metabolism, Inborn Errors; Chromosome Aberrations; Chromosome Disorders; Cystic Fibrosis; Endoscopy; Female; Fetoscopy; Fetus; Genetic Diseases, Inborn; Humans; Lesch-Nyhan Syndrome; Lipid Metabolism, Inborn Errors; Lysosomes; Metabolism, Inborn Errors; Mucopolysaccharidoses; Pregnancy; Prenatal Diagnosis; Radiography; Ultrasonography; Urine

Topics: Acid Phosphatase; Clinical Enzyme Tests; Evaluation Studies as Topic; Genetic Diseases, Inborn; Glucosidases; Hemagglutination Tests; Heterozygote; Homozygote; Humans; Lectins; Leukocytes; Lymphocytes; Metabolism, Inborn Errors; Methods; Neutrophils; Nitrogen; Pressure; Stimulation, Chemical

Topics: Abortion, Induced; Acid Phosphatase; Adrenal Hyperplasia, Congenital; Amnion; Amniotic Fluid; Carbohydrate Metabolism, Inborn Errors; Congenital Abnormalities; Counseling; Culture Techniques; Cystic Fibrosis; Economics, Medical; Ethics, Medical; Female; Fetal Diseases; Fibroblasts; Genetic Diseases, Inborn; Glycogen Storage Disease; Heterozygote; Homozygote; Humans; Lysosomes; Mannose; Marfan Syndrome; Methods; Mucopolysaccharidoses; Muscular Dystrophies; Porphyrias; Pregnancy; Punctures; Xeroderma Pigmentosum

Topics: Acid Phosphatase; Amino Acids; Citrulline; DNA; Erythrocytes; Genetic Diseases, Inborn; Glucosephosphate Dehydrogenase; Hemoglobins; Humans; Infant, Newborn; Metabolism, Inborn Errors

Human red cell acid phosphatase (ACP1) is a polymorphic enzyme closely related to cytosolic low molecular weight acid phosphatases, a protein family broadly conserved among eukaryotes. Two different functions have been proposed for ACP1: flavin mononucleotide (FMN) phosphatase and phosphotyrosine phosphatase (PTPase). Given that genetic variants of ACP1 activity are common, the enzyme could have a role in regulating a large spectrum of cellular functions and, in turn, disease susceptibility. In the present paper we report a study of ACP1 genetic polymorphism in 1088 normal subjects and in 1267 subjects from the population of Rome admitted to hospital for a number of common diseases. All ACP1 parameters investigated show highly significant differences among samples, suggesting that the enzyme may have a significant role in some of the diseases considered. In particular, consistent associations of ACP1 with developmental disturbances and with hemolytic favism have been observed. In the majority of diseases showing association with ACP1, only one of the two ACP1 isoforms, f and s, is involved, supporting the hypothesis of a functional differentiation between the two enzymatic fractions.

Topics: Abortion, Habitual; Acid Phosphatase; Adult; Amino Acid Sequence; Case-Control Studies; Conserved Sequence; Erythrocytes; Favism; Female; Genetic Diseases, Inborn; Genetic Predisposition to Disease; Genetic Variation; Genotype; Humans; Infant, Newborn; Isoenzymes; Italy; Male; Odds Ratio; Polymorphism, Genetic; Pregnancy; Reference Values

Topics: Acid Phosphatase; Adolescent; Adult; Child; Child, Preschool; Female; Fructose-Bisphosphate Aldolase; Genetic Diseases, Inborn; Humans; Infant; L-Lactate Dehydrogenase; Male; Metabolism, Inborn Errors; Middle Aged; Osteopetrosis