bluuebunny/crossref_metadata_2025_split huggingface dataset:
Liver‐specific glucose‐6‐phosphatase is not present in human placenta
Authors: Chen Y. T. , Kato T. 
Published: June 2005

AbstractType I glycogen storage disease (McKusick 23220), an inherited absence or deficiency of glucose‐6‐phosphatase (EC 3.1.3.9) activity in the liver, kidney and intestine, is associated with the accumulation of glycogen in those organs. Previous reports have shown that glucose‐6‐phosphatase exists in human placenta and that detection of a heterozygote for this disorder from placenta might be possible. Our finding of a normal glucose‐6‐phosphatase activity in a placenta from a patient at risk for type Ia glycogen storage disease prompted us to examine in more detail placental glucose‐6‐phosphatase. Unexpectedly, we found the properties of the placental enzyme differed from that in normal liver, and the placental enzyme hydrolyzed glucose‐6‐phosphate, mannose‐6‐phosphate, β‐glycerol phosphate and glucose‐1‐phosphate equally well. Our data suggest the enzyme deficient in type I glycogen storage disease cannot be detected in placenta.
A new variant of glycogen storage disease type 1: Probably due to a defect in the glucose‐6‐phosphate transport system
Authors: Igarashi Y. , Otomo H. , Narisawa K. , Tada K. 
Published: June 2005

AbstractA new variant of glycogen storage disease (GSD) Type 1, with clinical symptoms and laboratory findings consistent with those of glucose‐6‐phosphatase (G6Pase) deficiency, is described. Assay of G6Pase in liver from the patient immediately after biopsy by the method of Nordlie and Arion gave low activity (0.8µmol/min per g liver) in the absence of detergent, but was normal (10.2µmol/min per g liver) after addition of detergent. Liver stored for a day at −25°C had normal activity (3.4µmol/min per g liver) without detergent. In patients with GSD Type 1a, G6Pase activity was very low both with and without detergent. These findings suggest a defect in glucose‐6‐phosphate transport in the microsomal membrane of the patient's liver. The integrity of microsomal membrane was destroyed by storage at −25°C, when activity of G6Pase in the patient's liver could be demonstrated. This may be the first example of a disorder involving the transport system of an intracellular membrane.
Neutral 17β‐hydroxysteroid oxidoreductase deficiency in testes causing male pseudohermaphroditism in an infant
Authors: Harkness R. A. , Thistlethwaite D. , Darling J. A. B. , Skakkebaek N. E. , Corker C. S. 
Published: June 2005

AbstractA deficiency of neutral 17β‐hydroxysteroid oxidoreductase activity in tests has been diagnosed in an infant with male pseudohermaphroditism.In vivo stimulation tests of testicular endocrine function with human chorionic gonadotrophin provided an accurate diagnosis in contrast to estimates of enzymic activityin vitro in testes and other tissues. The discrepancy in testes may be due to the absence of gonadotrophin stimulation in the latter studies. Thein vitro studies show that there are at least two forms of 17β‐hydroxysteroid oxidoreductase under independent genetic control and that only one form is localized to the testes. The diagnosis before puberty has allowed early treatment by removal of the abnormal testes which should prevent the usual presenting clinical signs of marked masculinization and hirsutism at puberty.
Keratan sulphate excretion in a patient with Kniest dysplasia
Authors: Pennock C. A. , Gordon I. R. S. , Longdon K. , Burman D. 
Published: June 2005

AbstractThe clinical and radiological features of a patient with Kniest dysplasia, a form of metatropic dwarfism, are described. The patient excreted glycosaminoglycans (mucopolysaccharides) in normal amounts during infancy but subsequently showed abnormal keratan sulphate excretion. The significance of these findings and the possibility that Kniest dysplasia represents another mucopolysaccharidosis are discussed.
Infantile type 2 sialidosis in a Pakistani family — a clinical and biochemical study
Authors: King M. , Cockburn F. , MacPhee G. B. , Logan R. W. 
Published: June 2005

AbstractTwo siblings of consanguineous parents presented in infancy with failure to thrive, mild coarsening of facies, visceromegaly and corneal opacities. One showed reduced hepatic β‐galactosidase activity suggesting a GM1‐gangliosidosis variant. Both patients developed progressive coarsening of facies, slow neurological deterioration, macular cherry‐red spots and punctate cataracts over the first decade. Urine screening with thin layer chromatography revealed abnormal excretion of two slow‐moving oligosaccharide bands and leukocyte and fibroblast neuraminidase activity was grossly reduced. The mother, phenotypically normal, showed levels of neuraminidase compatible with heterozygosity.These patients have primary neuraminidase deficiency. The clinical and biochemical variables are reviewed.
Human placental steroid sulphatase—purification and monospecific antibody production in rabbits
Authors: van der Loos C. M. , van Breda A. J. , van den Berg F. M. , Walboomers J. M. M. , Jöbsis A. C. 
Published: June 2005

AbstractHuman steroid sulphatase was purified 43‐fold from placental microsomes using a four step procedure: solubilization with Miranol H2M, Bio‐Gel A 1.5m chromatography, column chromatofocusing and Sephadex G‐75 chromatography. The purified enzyme that appeared electrophoretically homogeneous was used to immunize rabbits. Protein blotting demonstrated that the resulting antiserum mainly reacted with a polypeptide of 63 000 dalton, which is about the size of placental steroid sulphatase. The antiserum was freed from minor impurities by absorbing it to Sepharose 4B with immobilized antigens prepared from a steroid sulphatase deficient placenta.
A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatablemRNA
Authors: Graf L. , McIntyre P. , Hoogenraad N. , Brown G. , Haan E. A. 
Published: June 2005

AbstractA lethal carbamylphosphate synthetase (CPS: EC 6.3.4.16) deficiency (McKusick 23730) was found in a newborn girl; who presented on the second day of life with acute hyperammonaemia, hypotonia, seizures and who died in a coma 6 days after birth. The activity of the mitochondrial urea cycle enzymes, CPS and ornithine transcarbamylase (OTC: EC 2.1.3.3) were measured on a needle biopsy sample taken from liver and showed that CPS was 1.4% of the normal mean (0.09 nmol/min/mg protein) whereas OTC activity was normal (110 nmol/min/mg protein). Immunological analysis of the liver sample showed no detectable immunoreactive CPS and confirmed the presence of normal levels of OTC. RNA was extracted from postmortem liver andin vitro translation experiments showed that there was no translatable CPSmRNA and confirmed that no CPS protein was synthesized in this child. The absence of translatablemRNA is explicable in terms of a genetic defect which results in a failure to synthesizemRNA for CPS, or synthesis of a defective form ofmRNA which is not translated.
Kinetic properties of erythrocyte phosphofructokinase in patients with type VII glycogenosis from two families — close similarity to liver type phosphofructokinase
Authors: Shimizu T. , Kono N. , Mineo I. , Sumi S. , Nonaka K. , Tarui S. , Koyama W. 
Published: June 2005

AbstractThe kinetic properties of phosphofructokinases (PFKs) from normal human liver, muscle and erythrocytes, and from erythrocytes of two unrelated patients with type VII glycogenosis (muscle PFK deficiency, McKusick 23280) were analysed in this study. Sensitivity to inhibition by ATP and to inhibition by 3‐phosphoglycerate, 2‐phosphoglycerate, phosphoenolpyruvate and citrate were quite different for muscle and liver PFKs. The kinetic characteristics of normal erythrocyte PFK were intermediate between those of muscle and liver PFKs. The kinetic constants of erythrocyte PFK of a patient in one family were indistinguishable from those in the other family. In addition, kinetic behaviour of residual PFK activity in erythrocytes from patients in the two families were quite similar to those of normal liver PFK. These results of kinetic analyses provide convincing evidence for the concept that normal erythrocyte PFK consists of muscle and liver type subunits. Residual erythrocyte PFK activity in type VII glycogenosis is thus concluded to reflect the activity of liver type PFK existing in patient's erythrocytes.
Glutaric aciduria type I presenting with hypoglycaemia
Authors: Dunger D. B. , Snodgrass G. J. A. I. 
Published: June 2005

AbstractWe present a child with glutaryl CoA‐dehydrogenase deficiency (type I glutaric aciduria) who presented with bilateral subdural hydromas, and progressive choreoathetosis and dysarthria. The diagnosis was made when she was investigated for hypoglycaemia at the age of 3.5 years. Temporary adrenocortical insufficiency was also noted. Three years after diagnosis the adrenal insufficiency and hypoglycaemia have resolved and treatment with riboflavin and ‘lioresal’, a GABA analogue, has prevented any further neurological deterioration.
Biochemical investigations on a patient with a defect in cytosolic acetoacetyl‐CoA thiolase, associated with mental retardation
Authors: Bennett M. J. , Hosking G. P. , Smith M. F. , Gray R. G. F. , Middleton B. 
Published: June 2005

AbstractA severely mentally retarded boy with two normal siblings was persistently found to excrete elevated amounts of 3‐hydroxybutyrate and acetoacetate. Enzyme analysis in cultured fibroblasts revealed a probable deficiency in cytosolic acetoacetyl‐CoA thiolase which was about half the control activity with normal mitochondrial thiolase activities. Treatment with reduced dietary fat was initiated and a rapid reduction of the ketosis to biochemical normality was demonstrated. Shortly after initiating dietary treatment he presented with severe gastrointestinal problems and the histological features of colitis cystica superficialis. This appeared to respond to intravenous hydrocortisone therapy with an apparent complete recovery.
Cyclic adenosine monophosphate excretion in urine of patients and carriers of congenital nephrogenic diabetes insipidus
Authors: Uttley W. S. , Atkinson B. , Adams A. , Shirling D. 
Published: June 2005

AbstractUrinary excretion of cyclic adenosine monophosphate (cAMP) is assessed in response to pitressin stimulation in three patients with nephrogenic diabetes insipidus, four carriers and seven controls. There is no significant difference in cAMP excretion between these groups when corrected for surface area, nor is there any significant increase in excretion after pitressin stimulation. There is very close correlation between urinary cAMP and both urinary concentration and urinary creatinine excretion. Urinary cAMP after pitressin stimulation does not discriminate between carriers of nephrogenic diabetes insipidus and control subjects.
Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with menkes syndrome
Authors: Kodama H. , Okabe I. , Yanagisawa M. , Kodama Y. 
Published: June 2005

SummaryThe mitochondrial copper concentrations and cytochrome C oxidase activity of the fibroblasts from the patients with Menkes syndrome were investigated. Both the mitochondrial copper concentrations and cytochrome C oxidase activity of fibroblasts from patients with Menkes syndrome were lower than those of the control fibroblasts. These data indicate that the mitochondria of fibroblasts from patients with Menkes syndrome are in a state of copper deficiency. The activity decline of cytochrome C oxidase, a mitochondrial cuproenzyme, seems to be caused by copper deficiency in the mitochondria.
Enzymological characterization of a feline analogue of primary hyperoxaluria type 2: a model for the human disease
Authors: Danpure C. J. , Jennings P. R. , Mistry J. , Chalmers R. A. , McKerrell R. E. , Blakemore W. F. , Heath M. F. 
Published: June 2005

SummaryThis paper concerns an enzymological investigation into a putative feline analogue of the human autosomal recessive disease primary hyperoxaluria type 2. The hepatic activities ofd‐glycerate dehydrogenase, using bothd‐glycerate and hydroxypyruvate as substrates, and glyoxylate reductase, which are the deficient enzyme activities in human primary hyperoxaluria type 2, were markedly depleted in four affected cats (0–6% of controls). The activities of a number of other enzymes, lactate dehydrogenase, glutamate dehydrogenase,d‐amino acid oxidase, aspartate: 2‐oxoglutarate aminotransferase, glutamate: glyoxylate aminotransferase and alanine: glyoxylate aminotransferase (the deficient enzyme in primary hyperoxaluria type 1) were unaltered. The intracellular distribution ofd‐glycerate dehydrogenase and glyoxylate reductase in cat liver was shown to be cytosolic, as they are in human liver. The activities ofd‐glycerate dehydrogenase and glyoxylate reductase were determined in unaffected related cats and putative heterozygotes were identified. The correlation betweend‐glycerate dehydrogenase and glyoxylate reductase activities in the related cats and their combined deficiency in the affected cats confirmed previous suggestions that they are identical gene products.
Neurological deterioration in adult phenylketonuria
Authors: Villasana D. , Butler I. J. , Williams J. C. , Roongta S. M. 
Published: June 2005

SummaryA 28‐year‐old man with classical phenylketonuria had increased seizure frequency and rapidly progressive spasticity. There was a marked reduction of biogenic amine neutotransmitter metabolites in cerebrospinal fluid. Dietary therapy reduced serum phenylalanine levels, improved symptoms of hypertonicity, and cerebrospinal fluid neurotransmitter metabolites became normal. An adolescent male with classical phenylketonuria, treated by dietary restriction until age 6 years, was assessed for decreasing school performance at 18 years. Cerebrospinal fluid biogenic amine neurotransmitter metabolites were significantly reduced. Magnetic resonance imaging in both subjects showed multiple areas of increased signal intensity in cerebral white matter. Neuropathological changes in classical phenylketonuria have been characterized as a dysmyelinating or demyelinating process. Neurochemical studies show a defect in brain lipids and biogenic amine metabolism. In the past, dietary therapy was directed at reducing hyperphenylalaninaemia only during the first decade of life. This report, as well as other studies, indicates that dietary therapy should be lifelong in patients with classical phenylketonuria, in order to prevent progressive and insidious neurological deterioration in later life.
A specific fluorogenic assay for N‐acetylgalactosamine‐4‐sulphatase activity using immunoadsorption
Authors: Brooks D. A. , Gibson G. J. , McCourt P. A. G. , Hopwood J. J. 
Published: June 2005

SummaryA method combining immune capture and enzyme detection by fluorochemistry has been developed for the diagnostic assay of N‐acetylgalactosamine‐4‐sulphatase (4‐sulphatase). The procedure uses a monoclonal antibody 4‐S 4.1 to immunoadsorb 4‐sulphatase specifically from complex protein samples containing other sulphatases, and 4‐methylumbelliferyl sulphate to detect captured 4‐sulphatase. The assay provides an accurate and simple method for the diagnosis of Maroteaux‐Lamy syndrome (Mucopolysaccharidosis type VI).
β‐Mannosidase deficiency in a female infant with epileptic encephalopathy
Authors: Cooper A. , Wraith J. E. , Savage W. J. , Thornley M. , Noronha M. J. 
Published: June 2005

SummaryWe report a female infant with an isolated deficiency ofβ‐mannosidase activity. At nine months of age dysmorphism was absent except for brachecephaly. There was moderate developmental delay and a startle response to sound. At 12 months there was a sudden onset of tonic‐clonic seizures which were unresponsive to drug therapy, requiring paralysis and mechanical ventilation for control. The child died suddenly aged 15 months.β‐mannosidase activity was markedly reduced in white cells and cultured skin fibroblasts whilst other lysosomal enzymes were normal. The disaccharide ManGlcNAc was excreted in urine but urinary mucopolysaccharides were normal.
Altered phosphorylation state of branched‐chain 2‐Oxo acid dehydrogenase in a branched‐chain acyltransferase deficient human fibroblast cell line
Authors: Eisenstein R. S. , Hoganson G. , Miller R. H. , Harper A. E. 
Published: June 2005

SummaryThe abundance and phosphorylation state of the polypeptide constitutents of the human branched‐chain 2‐oxo acid dehydrogenase complex were examined in mitochondria from normal and maple syrup urine disease (MSUD) fibroblasts. In normal fibroblast mitochondria two forms of the E1α subunit were observed: non‐phosphorylated (E1α) and phosphorylated (E1α−P). About 40–50% of E1α was present as E1α−P. The ability to quantitate the two forms of E1α permitted examination of the association between decreased capacity to oxidize branched‐chain 2‐oxo acids and the phosphorylation state of E1α.Changes in phosphorylation state of E1α were observed in MSUD fibroblasts as compared to control cells. Of particular interest was the absence of E1α−P in an MSUD fibroblast line which lacked the dihydrolipoyl acyltransferase (E2) subunit of the dehydrogenase complex. In two MSUD cell lines deficient in E1α, the abundance of E1α−P appeared to be preferentially reduced. A fourth MSUD cell line contained normal quantities of E3, E2 and both forms of the E1α polypeptide. Our results indicate that alterations in the abundance of dehydrogenase complex polypeptides in MSUD fibroblasts may influence the phosphorylation state of the E1α polypeptide. They demonstrate the potential for examining simultaneously mutations which affect both the catalytic and regulatory components of the dehydrogenase complex.
Confocal scanning laser microscopy of mitochondria: a possible tool in the diagnosis of mitochondrial disorders
Authors: Ruiters M. H. J. , van Spronsen E. A. , Skjeldal O. H. , Stromme P. , Scholte H. R. , Pzyrembel H. , Smit G. P. A. , Ruitenbeek W. , Agsteribbe E. 
Published: June 2005

SummaryThis paper describes a non‐invasive method for the study of mitochondrial morphology in cultured human skin fibroblasts by confocal scanning laser microscopy after staining the mitochondria with 2‐[4‐(dimethylaminostyryl]‐1‐methylpyridinium iodide. This method is applied to compare mitochondria in fibroblasts from healthy individuals and from patients with mitochondrial myopathy. In most cases there is a striking swelling of the patient's mitochondria and a loss of fine structure. The results with respect to the potential of this method as a diagnostic tool are discussed.
Increased levels of DHEAS in serum of patients with X‐linked ichthyosis
Authors: Milone A. , Delfino M. , Piccirillo A. , Illiano G. M. P. , Aloj S. M. , Bifulco M. 
Published: June 2005

SummaryThe metabolic basis of X‐linked ichthyosis is a deficiency of steroid sulphatase, a microsomal enzyme which removes sulphate groups from sulphated steroids. We report on a carefully controlled group of 15 patients with recessive X‐linked ichthyosis, selected in a narrow age range (22–33 years), in whom, through the use of gas chromatographic analysis and conventional radioimmunoassay, we have measured not only elevated serum cholesterol sulphate levels but also significantly elevated serum dehydroepiandrosterone sulphate levels. The latter finding has been controversial in previous reports. We believe that the radioimmunoassay procedure generally used should be held responsible for such controversy since it often gives rise to false positive and/or false negative values. Gas chromatography, although more exacting, appears to be far more reliable for the assessment of elevated serum dehydroepiandrosterone.
Sucrase‐isomaltase and cystic fibrosis
Authors: Sips H. J. , Claass A. H. W. , van Dongen J. M. , Willemsen R. , Hoogeveen A. T. , Galjaard H. , Sinaasappel M. , Hauri H. ‐P. , Sterchi E. E. 
Published: June 2005

AbstractThe intestinal microvillar enzyme complex sucrase‐isomaltase has been studied in cystic fibrosis and control ileum. A number of biochemical parameters of the enzyme in ileum homogenates have been determined. Both solubilized as well as membrane‐bound sucrase‐isomaltase were analyzed with respect to their reaction with monoclonal antibodies against human sucrase‐isomaltase. Finally the subcellular localization of sucrase‐isomaltase was verified by immunoelectronmicroscopy or via the analysis of purified brush‐border membrane preparations. At all levels no significant differences could be detected between sucrase‐isomaltase of cystic fibrosis and control ileum. It is concluded that an abnormal subcellular localization and/or abnormal enzymatic activity of sucrase‐isomaltase in cystic fibrosis intestine cannot explain the markedly decreased disaccharidase activities in amniotic fluids from pregnancies resulting in a child affected with cystic fibrosis.
Fructose‐1,6‐diphosphatase deficiency: Diagnosis using leukocytes and detection of heterozygotes with radiochemical and spectrophotometric methods
Authors: Alexander D. , Assaf M. , Khudr A. , Haddad I. , Barakat A. 
Published: June 2005

AbstractThe first two cases of fructose‐1,6‐diphosphatase (FDPase) deficiency from the Middle East have been diagnosed on leukocytes using a spectrophotometric assay and a new radiochemical technique. The control mean for FDPase measured by the spectrophotometric assay was 178.2 nm mg−1 h−1 (n=12), 66.8 nm mg−1 h−1 for obligate heterozygotes (n=4) and non‐detectable in the two patients. By the radiochemical assay the values were controls, 103.3; heterozygotes, 20.6; patients, 0.46 and 3.5 nm mg−1 h−1. Using both methods it was possible to identify two certain FDPase heterozygotes and three non‐carriers in the family of one of the probands. The radiochemical method was found to be more effective in differentiating heterozygotes from controls than the spectrophotometric method. However, either technique may be conveniently used for the diagnosis of FDPase deficiency in leukocytes.
Decreased procollagen production in cultured fibroblasts from patients with Lowe's syndrome
Authors: Palmieri M. J. , O'Hara J. , States B. , Segal S. 
Published: June 2005

AbstractThe oculo‐cerebro‐renal syndrome described by Lowe is a catastrophic disease in children characterized by progressive eye, central nervous system and kidney degeneration. We determined procollagen production in cultured skin fibroblasts originating from patients with Lowe's syndrome as well as normal individuals after incubation of cells with [14C]proline for 1, 4 and 20 h. Using [14C]hydroxyproline formation, in relation to cell protein or DNA, as an index of procollagen production, we found that cultured cells from patients synthesized collagenous protein at a substantially reduced level. This decrease in synthesis in cultured fibroblasts from patients could not be accounted for by differences in the specific radioactivity of the free intracellular proline; moreover, it could not be attributed to differences in the kinetics of growth between normal and affected cell lines. The degree of hydroxylation of proline residues in collagen was the same in both normal and affected cells.