Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene

1998 ◽  
Vol 102 (4) ◽  
pp. 423-429 ◽  
Author(s):  
Barbara Burwinkel ◽  
Lluis Amat ◽  
R. George F. Gray ◽  
Nobutake Matsuo ◽  
Koji Muroya ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Phosphorylase Kinase ◽  
Phka2 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.

scholarly journals Detection of PHKA2 Gene Mutation in Four Japanese Patients with Hepatic Phosphorylase Kinase Deficiency

2003 ◽  
Vol 200 (1) ◽  
pp. 47-53 ◽  
Author(s):  
Kyoko Ban ◽  
Kohachiro Sugiyama ◽  
Kenji Goto ◽  
Fumihiko Mizutani ◽  
Hajime Togari
Keyword(s):  
Gene Mutation ◽  
Japanese Patients ◽  
Phosphorylase Kinase ◽  
Phka2 Gene

Autoantibodies to glycoprotein 2 are associated with the clinical phenotype in Crohn's disease

2014 ◽  
Vol 52 (08) ◽  
Author(s):  
D Roggenbuck ◽  
DP Bogdanos ◽  
D Reinhold ◽  
U von Arnim ◽  
P Malfertheiner ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Clinical Phenotype
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