Phosphorylase kinase deficiency: Severe glycogen storage disease with evidence of autosomal recessive mode of inheritance

1982 ◽  
Vol 139 (3) ◽  
pp. 210-210 ◽  
Author(s):  
O. Søvik ◽  
Th. de Barsy ◽  
B. Maehle
Keyword(s):  
Glycogen Storage Disease ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Phosphorylase Kinase ◽  
Autosomal Recessive Mode ◽  
Mode Of Inheritance

PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature

2018 ◽  
Vol 31 (3) ◽  
pp. 331-338 ◽  
Author(s):  
Chunyun Li ◽  
Lihua Huang ◽  
Lang Tian ◽  
Jia Chen ◽  
Shentang Li ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Novel Mutation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Chinese Family ◽  
Phosphorylase Kinase

AbstractBackground:PHKG2gene mutation can lead to liver phosphorylase kinase (PhK) deficiency, which is related to glycogen storage disease type IX (GSD IX). GSD IXc due toPHKG2mutation is the second most common GSD IX.Methods:We identified a novel mutation (c.553C>T, p.Arg185X) inPHKG2in a Chinese family and verified it by next-generation and Sanger sequencing. The mutation spectrum of thePHKG2gene was summarized based on 25 GSD IXc patients withPHKG2mutations.Results:We found that missense mutation (39%) was the most common type of mutation, followed by nonsense mutation (23%). Mutations were more prevalent in Asian (12/25) and European (9/25) populations than in populations from elsewhere. The exons had more sites of mutation than the introns, and exons 3 and 6 were the most frequent sites of mutations.Conclusions:This study expands our knowledge of thePHKG2gene mutation spectrum, providing a molecular basis for GSD IXc.

Liver Glycogenosis Caused by a Defective Phosphorylase System: Hemolysate Analysis

PEDIATRICS ◽  
1981 ◽  
Vol 67 (1) ◽  
pp. 107-112
Author(s):  
C. Baussan ◽  
N. Moatti ◽  
M. Odievre ◽  
A. Lemonnier
Keyword(s):  
Glycogen Storage Disease ◽  
Kinase Activity ◽  
Storage Disease ◽  
Tolerance Test ◽  
Glycogen Storage ◽  
Enzyme Assays ◽  
Phosphorylase Kinase ◽  
Phosphorylase Activity ◽  
Activation Curve ◽  
Glucosidase Activity

Investigated were 24 cases of glycogenosis caused by a reduction in liver phosphorylase activity. The intravenous glucagon tolerance test could not discriminate between phosphorylase kinase deficiency [glycogen storage disease (GSD) IX] and phosphorylase deficiency (GSD VI). These two subgroups were distinguished by hemolysate enzyme assays: (1) GSD IX was characterized by a residual phosphorylase kinase activity, a low activation curve for endogenous phosphorylase b and increased amylo-1,6-glucosidase activity. (2) GSD VI was characterized by a normal or increased phosphorylase kinase activity, a slight activation of endogenous phosphorylase b and a normal amylo-1,6-glucosidase activity.

Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease

1995 ◽  
Vol 4 (1) ◽  
pp. 77-83 ◽  
Author(s):  
J. Hendrickx ◽  
P. Coucke ◽  
E. Dams ◽  
P. Lee ◽  
M. Odievre ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Liver Glycogen ◽  
Glycogen Storage ◽  
Phosphorylase Kinase ◽  
Kinase Gene

scholarly journals Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Hamza Hassan Khan ◽  
Lauren Parr ◽  
Allison Jay ◽  
Saleem Raza ◽  
Hernando Lyons ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Novel Mutation ◽  
Glycogen Storage ◽  
Deletion Syndrome ◽  
Chromosomal Microarray ◽  
Vastus Lateralis Muscle ◽  
Phosphorylase Kinase ◽  
Phka2 Gene

We report a case of a 17-month-old male with a history of developmental delay with poor muscle control, hepatomegaly, and transaminitis. Ultrasound of abdomen revealed hepatomegaly with a liver span of 13 cm, homogeneous parenchyma, and normal spleen size. Liver and muscle biopsies were obtained: the liver biopsy revealed distended hepatocytes with excessive glycogen accumulation and fine septate fibrosis. Biopsy of the right vastus lateralis muscle showed focal swollen glycogen containing mitochondria. For the developmental delay, a chromosomal microrarray was ordered. The chromosomal microarray revealed the patient to have 1q21 duplication syndrome and 16p11.2 deletion syndrome. Given the liver and muscle biopsy findings, a glycogen storage disease panel was sent which identified the patient to be hemizygous for a variant of uncertain significance denoted as p.Gly 131Val, c.392G > T in the PHKA2 gene. PKHA2 gene encodes the alpha subunit of hepatic phosphorylase kinase. 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.

Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: A new type of glycogen storage disease

1985 ◽  
Vol 16 (2) ◽  
pp. 193-197 ◽  
Author(s):  
Yoshinobu Eishi ◽  
Tamiko Takemura ◽  
Ryoji Sone ◽  
Hirohei Yamamura ◽  
Kuniaki Narisawa ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Phosphorylase Kinase ◽  
New Type ◽  
Deficient Activity ◽  
Kinase A
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