Low activity of phosphorylase and increased concentration of glycogen were found in liver tissue from five children with asymptomatic hepatomegaly. In vitro activation of liver phosphorylase in these patients occurred at the rate of 10% or less of normal. Elimination of the defect by the addition of kinase that activates phosphorylase demonstrated the integrity of the phosphorylase enzyme and the deficient activity of dephophophosphorylase kinase.
George Hug, William K. Schubert, Gail Chuck
Title and authors | Publication | Year |
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Dosage Compensation in Females with X-Linked Metabolic Disorders
P Juchniewicz, E Piotrowska, A Kloska, M Podlacha, J Mantej, G Węgrzyn, S Tukaj, J Jakóbkiewicz-Banecka |
International journal of molecular sciences | 2021 |
Liver histology in children with glycogen storage disorders type VI and IX
I Degrassi, M Deheragoda, D Creegen, H Mundy, A Mustafa, R Vara, N Hadzic |
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver | 2020 |
Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines
AA Baranov, LS Namazova-Baranova, AN Surkov, OS Gundobina, EA Vishneva, TV Margieva, ND Vashakmadze, LR Selimzyanova |
2020 | |
Inborn Metabolic Diseases
JM Saudubray, MR Baumgartner, J Walter |
Inborn Metabolic Diseases | 2016 |
Swaiman's Pediatric Neurology
GM Enns, TM Cowan, O Klein, S Packman |
Swaiman's Pediatric Neurology | 2012 |
Advances in Clinical Chemistry
M Mahler |
Advances in Clinical Chemistry Volume 54 | 2011 |
Reply
J Bommer, T Heinrich, H Heidt, V Hafner, E Jenetzky, I Walter-Sack, G Mikus |
Nephrology Dialysis Transplantation | 2008 |
Storage Diseases
P Maertens, PR Dyken |
Textbook of Clinical Neurology | 2007 |
Principles of Perinatal—Neonatal Metabolism
RM Cowett |
1998 | |
Genetic deficiencies of the glycogen phosphorylase system
J Hendrickx, PJ Willems |
Human Genetics | 1996 |
Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase
M Elleder, YS Shin, A Zuntová, P Vojtovič, V Chalupecký |
Virchows Archiv A Pathological Anatomy and Histopathology | 1993 |
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients
PJ Willems, WJ Gerver, R Berger, J Fernandes |
European Journal of Pediatrics | 1990 |
Muscle glycogenosis
SW Moses |
Journal of Inherited Metabolic Disease | 1990 |
Adult phosphorylaseb kinase deficiency
PR Clemens, M Yamamoto, AG Engel |
Annals of Neurology | 1990 |
Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency
P Bührdel, HJ Böhme, L Didt |
European Journal of Pediatrics | 1990 |
Phosphorylase b kinase deficiency in man: a review
IE Berg, R Berger |
Journal of Inherited Metabolic Disease | 1990 |
Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria
RA Harkness, RJ Pollitt, GM Addison |
1990 | |
Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency
P Bührdel, , L Didt |
European Journal of Pediatrics | 1990 |
Phosphorylase b kinase deficiency in man: a review
IE van den Berg, R Berger |
Journal of Inherited Metabolic Disease | 1990 |
Starvation of phosphorylase kinase deficient rats is accompanied by partial hepatic glycogen depletion
PC Calder, R Geddes |
Biochemical Journal | 1988 |
Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency
S Servidel, LA Metlay, J Chodosh, S DiMauro |
The Journal of Pediatrics | 1988 |
Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes
LJ Alvarado, E Gasca-Centeno, RE Grier |
The Journal of Pediatrics | 1988 |
Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX
N Bashan, R Potashnik, T Ehrlich, SW Moses |
Journal of Inherited Metabolic Disease | 1987 |
An hepatic metabolic profile in sudden infant death (SIDS)
GF Vawter, CA McGraw, G Hug, HP Kozakewich, J McNaulty, F Mandell |
Forensic Science International | 1986 |
Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency
M Tuchman, BI Brown, BA Burke, RA Ulstrom |
Metabolism | 1986 |
Methodology Ecological, Genetic, and Nutritional Effects on Growth
F Falkner, JM Tanner |
1986 | |
Progress in Medicinal Chemistry
JR Brown, SH Imam |
Progress in Medicinal Chemistry | 1985 |
Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: A new type of glycogen storage disease
Y Eishi, T Takemura, R Sone, H Yamamura, K Narisawa, R Inchinohasama, M Tanaka, S Hatakeyama |
Human Pathology | 1985 |
Rapid Prenatal Diagnosis of Glycogen-Storage Disease Type II by Electron Microscopy of Uncultured Amniotic-Fluid Cells
G Hug, S Soukup, M Ryan, G Chuck |
New England Journal of Medicine | 1984 |
The autosomal form of phosphorylase kinase defficiency in man: Reduced activity of the muscle enzyme
B Lederer, G de Werve, T Barsy, HG Hers |
Biochemical and Biophysical Research Communications | 1980 |
Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance
V Ionasescu, G Hug, C Hoppel |
Journal of neurology, neurosurgery, and psychiatry | 1980 |
Inherited Disorders of Carbohydrate Metabolism
D Burman, JB Holton, CA Pennock |
1979 | |
Pleiotropic drug resistance in cystic fibrosis fibroblasts: Increased resistance to cyclic AMP
J Epstein, JL Breslow, MJ Fitzsimmons, MM Vayo |
Somatic Cell Genetics | 1978 |
Principles and Prenatal Growth
F Falkner, JM Tanner |
1978 | |
Cyclic amp-induced cytolysis in S49 cells: selection of an unresponsive “deathless” mutant
I Lemaire, P Coffino |
Cell | 1977 |
Animal models of glycogen storage conditions. Their relation to human disease
SR Gross |
The Western journal of medicine | 1975 |
Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency
B Lederer, FV Hoof, GV Berghe, H Hers |
Biochemical Journal | 1975 |
Teratology
CL Berry, DE Poswillo |
Teratology | 1975 |
The glycogen storage diseases
BE Ryman |
Journal of clinical pathology. Supplement (Royal College of Pathologists) | 1974 |
GENETIC DEFECTS OF GLYCOGEN METABOLISM AND ITS CONTROL
F Huijing |
Annals of the New York Academy of Sciences | 1973 |
Glycogen phosphorylase kinase deficiency: A survey of enzymes in phosphorylase activating system
Y Morishita, K Nishiyama, H Yamamura, S Kodama, H Negishi, M Matsuo, T Matsuo, Y Nishizuka |
Biochemical and Biophysical Research Communications | 1973 |
Hypoglycemia in infancy and childhood. Part II
AS Pagliara, IE Karl, M Haymond, DM Kipnis |
The Journal of Pediatrics | 1973 |
Low molecular weight glycogen as a cause of generalized glycogen storage disease
W Krivit, HL Sharp, JC Lee, J Larner, R Edstrom |
The American Journal of Medicine | 1973 |
Glycogen storage disease type IX: Benign glycogenosis of liver and hepatic phosphorylase kinase deficiency
RN Schimke, RM Zakheim, RC Corder, G Hug |
The Journal of Pediatrics | 1973 |
Alkaline Phosphatase
MM Kaplan |
New England Journal of Medicine | 1972 |
CHOLECYSTOGRAPHY AND RENAL FAILURE
TJ Daymond |
The Lancet | 1971 |
HEPATIC GLYCOGENOSIS
F Huijing |
The Lancet | 1971 |
INFECTION IN MAPLE-SYRUP-URINE DISEASE
RJ Harris |
The Lancet | 1971 |
THE HEPATIC GLYCOGENOSES
G Hug |
The Lancet | 1971 |
Phosphorylase kinase deficiency in mice
F Huijing |
FEBS Letters | 1970 |
Liver glycogenosis and phosphorylase kinase deficiency
F Huijing, J Fernandes |
The American Journal of Human Genetics | 1970 |
Type VI glycogenosis: Biochemical demonstration of liver phosphorylase deficiency
G Hug, WK Schubert |
Biochemical and Biophysical Research Communications | 1970 |
Loss of cyclic 3′5′-AMP dependent kinase and reduction of phosphorylase kinase in skeletal muscle of a girl with deactivated phosphorylase and glycogenosis of liver and muscle
G Hug, WK Schubert, G Chuck |
Biochemical and Biophysical Research Communications | 1970 |
Phosphorylase kinase deficiency
F Huijing |
Biochemical Genetics | 1970 |
The histochemical evaluation of the glycogen storage diseases. A review of techniques and their limitations
BD Lake |
The Histochemical Journal | 1970 |