Glycogen Storage Disease Type Ix

01/01/2020 - "These studies show that neither oral nor intravenous glucose improved exercise tolerance in this patient with PHK deficiency. "
05/13/2008 - "IV glucose administration appeared to improve exercise tolerance in the patient with PHK deficiency, but not to the same extent as in the patients with McArdle disease. "
04/20/2023 - "Objective: Glycogen storage disease type IX (GSD-IX) is a rare primary glucose metabolism abnormality caused by phosphorylase kinase deficiency and a series of pathogenic gene mutations. "
01/01/2020 - "No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency."
01/01/1989 - "Glucose production was measured using stable isotopic techniques in two patients with phosphorylase b kinase deficiency before and after oral ethanol (0.75 g/kg). "

12/01/1995 - "Urinary protein and calcium excretion were assessed in 77 patients with the hepatic glycogen storage diseases (GSD): 30 with GSD-I (median age 12.4 years, range 3.2-32.9 years), 25 with GSD-III (median age 10.5 years, range 4.2-31.3 years) and 22 with GSD-IX (median age 11.8 years, range 1.2-35.4 years). "
12/01/1995 - "Those with GSD-I had significantly greater albumin (F = 15.07, P < 0.001), retinol-binding protein (RBP) (F = 14.66, P < 0.001), N-acetyl-beta-D-glucosaminidase (NAG) (F = 9.41, P < 0.001) and calcium (F = 7.41, P = 0.001) excretion than those with GSD-III and GSD-IX. GSD-I patients (n = 18) also had significantly higher Cinulin (F = 5.57, P = 0.009), but CPAH did not differ (F = 0.77, NS). "
08/01/1983 - "In an assay measuring radioactive incorporation from gamma--P32P]ATP into phosphorylase b, cardiac muscle extracts from mice with the phosphorylase kinase deficiency mutation showed significant, calcium-dependent phosphorylase kinase activity that was 10 to 15% of that of Swiss mice, the control strain. "

12/01/1995 - "Those with GSD-I had significantly greater albumin (F = 15.07, P < 0.001), retinol-binding protein (RBP) (F = 14.66, P < 0.001), N-acetyl-beta-D-glucosaminidase (NAG) (F = 9.41, P < 0.001) and calcium (F = 7.41, P = 0.001) excretion than those with GSD-III and GSD-IX. GSD-I patients (n = 18) also had significantly higher Cinulin (F = 5.57, P = 0.009), but CPAH did not differ (F = 0.77, NS). "

12/01/1995 - "Those with GSD-I had significantly greater albumin (F = 15.07, P < 0.001), retinol-binding protein (RBP) (F = 14.66, P < 0.001), N-acetyl-beta-D-glucosaminidase (NAG) (F = 9.41, P < 0.001) and calcium (F = 7.41, P = 0.001) excretion than those with GSD-III and GSD-IX. GSD-I patients (n = 18) also had significantly higher Cinulin (F = 5.57, P = 0.009), but CPAH did not differ (F = 0.77, NS). "

12/01/1995 - "Those with GSD-I had significantly greater albumin (F = 15.07, P < 0.001), retinol-binding protein (RBP) (F = 14.66, P < 0.001), N-acetyl-beta-D-glucosaminidase (NAG) (F = 9.41, P < 0.001) and calcium (F = 7.41, P = 0.001) excretion than those with GSD-III and GSD-IX. GSD-I patients (n = 18) also had significantly higher Cinulin (F = 5.57, P = 0.009), but CPAH did not differ (F = 0.77, NS). "

07/01/2016 - "Substrate turnover studies in patients with McArdle disease and phosphorylase b kinase deficiency showed that palmitate lipolysis, utilization and plasma concentration was higher and total CHO lower in the patients during exercise vs. healthy subjects. "

11/01/1978 - "Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys."
11/01/1978 - "Four boys, aged 2 years 5 months to 3 years 7 months, with large hepatomegaly due to phosphorylase-kinase deficiency glycogenosis, were given a trial of sodium dextrothyroxine (D-T4) at a mean dose of 0.165 mg/kg/day for an average period of 6 months. "

04/15/2022 - "Muscle phosphorylase b kinase (PHK) deficiency is a rare mild metabolic disorder caused by mutations of the PHKA1 gene encoding the αM subunit of PHK. "
03/28/2022 - "GSD type IX α2, the most common subtype of GSD IX, is due to a deficiency of hepatic phosphorylase kinase. "
01/01/2021 - "We performed a systematic literature review in order to collect information on the clinical phenotypes and genotypes of all published GSD VI patients and to compare the data to those for GSD IX, a biochemically and clinically very similar disorder caused by a deficiency of phosphorylase kinase. "
09/25/2020 - "Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene."
01/01/2020 - "This change in the PHKA2 gene was in a highly conserved region and had been reported in another patient with decreased enzymatic activity of the phosphorylase kinase and who had symptoms of GSD IX. Based on this, the patient was started on treatment for GSD IX, and his family met with a dietician."

02/01/2017 - "Dual Genome Panel by Massively Parallel Sequencing revealed a hemizygous variant c.721A>G (p1241V) in the X-linked PHKA2 gene, a causative gene for GSD IX. Red blood cell PhK enzyme activity testing was low, supporting the diagnosis. "
05/01/1996 - "Whereas in the more common form of X-linked hepatic Phk deficiency, XLG1, the enzyme's activity is decreased both in liver and in blood cells, Phk activity in XLG2 is low in liver but normal or even enhanced in blood cells. "
01/01/1996 - "Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes."
01/01/1994 - "Hepatic phosphorylase b kinase deficiency with normal enzyme activity in erythrocytes and muscle."
01/01/1991 - "Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes and erythrocytes."

05/13/2008 - "Fueling around with glycogen: the implications of muscle phosphorylase b kinase deficiency."
05/01/2001 - "Muscle-specific phosphorylase b kinase deficiency is an unusual form of glycogen storage disorder. "
02/01/1998 - "Biochemical analysis of skeletal muscle revealed a slightly increased glycogen content, and enzymatic analysis revealed a muscle phosphorylase-b-kinase deficiency. "
01/24/2012 - "Our findings demonstrate that muscle PHK deficiency may present as an almost asymptomatic condition, despite a mild impairment of muscle glycogenolysis, raised CK levels, and glycogen accumulation in muscle. "
08/01/1982 - "Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency."

01/01/2021 - "The model will provide the first platform for further study of disease progression in GSD IX γ2 as well as for the evaluation of novel therapeutics."
06/01/2013 - "Aggressive therapy improves cirrhosis in glycogen storage disease type IX."
12/01/1993 - "Dietary therapies have been devised to use the available alternative metabolic pathways to compensate for disturbed glycogenolysis in GSD I (glucose-6-phosphatase deficiency), GSD III (debrancher enzyme deficiency), GSD VI (phosphorylase deficiency, which is less common), GSD IX (phosphorylase kinase deficiency), and GSD IV (brancher enzyme deficiency). "

12/01/2011 - "The clinical presentation and therapeutic requirements in the same mutation carriers were variable, and PhK deficiency necessitated tube-feeding in some children."

09/25/2020 - "The symptoms and biochemical abnormalities in liver glycogenosis due phosphorylase kinase deficiency tend to improve with proper dietary restrictions but need to be monitored for long-term complications such as liver fibrosis and cirrhosis."