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Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.

Kim JA, Kim JH, Lee BH, Kim GH, Shin YS, Yoo HW, Kim KM - Pediatr Gastroenterol Hepatol Nutr (2015)

Bottom Line: No other manifestations were evident except for hepatomegaly.His growth and development also have been proceeding normally.Diagnosed was made by histologic examination, an enzyme assay, and genetic testing with known c.3210_3212del (p.Arg1070del) mutation in PHKA2 gene.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

ABSTRACT
Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually manifest recurrent ketotic hypoglycemia with growth delay, but some may present simple hepatomegaly. Although GSD IX is one of the most common causes of GSDs, its biochemical and genetic diagnosis has been problematic due to its rarity, phenotypic overlap with other types of GSDs, and genetic heterogeneities. In our report, a 22-month-old boy with GSD IX is described. No other manifestations were evident except for hepatomegaly. His growth and development also have been proceeding normally. Diagnosed was made by histologic examination, an enzyme assay, and genetic testing with known c.3210_3212del (p.Arg1070del) mutation in PHKA2 gene.

No MeSH data available.


Related in: MedlinePlus

Pathologic findings. (A) Hepatocytes were filled with abundant glycogen particles in the cytoplasmonroutine transmission electron microscopy (×200). (B) Hepatocyte cytoplasmic material was positive byperiodic acid-Schiff staining (×200). (C) Hepatocyte cytoplasmic material was digested by diastase-treatment (×200).
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Figure 1: Pathologic findings. (A) Hepatocytes were filled with abundant glycogen particles in the cytoplasmonroutine transmission electron microscopy (×200). (B) Hepatocyte cytoplasmic material was positive byperiodic acid-Schiff staining (×200). (C) Hepatocyte cytoplasmic material was digested by diastase-treatment (×200).

Mentions: In our hospital, his AST, ALT, and bilirubin levels were 42 IU/L, 38 IU/L, and 0.7 mg/dL, respectively. His serum cholesterol, uric acid, glucose, lactic acid, CK, and albumin levels were all normal (Table 1). Serological tests revealed no evidence of infection such as hepatitis virus A, B, or C, Epstein-Barr virus, or cytomegalovirus. Plasma amino acid and urine organic acid profiles were also unremarkable. On sonographic examination, his liver was enlarged with slightly increased parenchymal echogenicity but the intrahepatic and extrahepatic biliary ducts were not dilated. The gallbladder and spleen were normal. A liver biopsy was performed and, on histological examination, the hepatocytes were filled with abundant glycogen particles in the cytoplasm with peripheral displacement of organelles (Fig. 1).


Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.

Kim JA, Kim JH, Lee BH, Kim GH, Shin YS, Yoo HW, Kim KM - Pediatr Gastroenterol Hepatol Nutr (2015)

Pathologic findings. (A) Hepatocytes were filled with abundant glycogen particles in the cytoplasmonroutine transmission electron microscopy (×200). (B) Hepatocyte cytoplasmic material was positive byperiodic acid-Schiff staining (×200). (C) Hepatocyte cytoplasmic material was digested by diastase-treatment (×200).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4493248&req=5

Figure 1: Pathologic findings. (A) Hepatocytes were filled with abundant glycogen particles in the cytoplasmonroutine transmission electron microscopy (×200). (B) Hepatocyte cytoplasmic material was positive byperiodic acid-Schiff staining (×200). (C) Hepatocyte cytoplasmic material was digested by diastase-treatment (×200).
Mentions: In our hospital, his AST, ALT, and bilirubin levels were 42 IU/L, 38 IU/L, and 0.7 mg/dL, respectively. His serum cholesterol, uric acid, glucose, lactic acid, CK, and albumin levels were all normal (Table 1). Serological tests revealed no evidence of infection such as hepatitis virus A, B, or C, Epstein-Barr virus, or cytomegalovirus. Plasma amino acid and urine organic acid profiles were also unremarkable. On sonographic examination, his liver was enlarged with slightly increased parenchymal echogenicity but the intrahepatic and extrahepatic biliary ducts were not dilated. The gallbladder and spleen were normal. A liver biopsy was performed and, on histological examination, the hepatocytes were filled with abundant glycogen particles in the cytoplasm with peripheral displacement of organelles (Fig. 1).

Bottom Line: No other manifestations were evident except for hepatomegaly.His growth and development also have been proceeding normally.Diagnosed was made by histologic examination, an enzyme assay, and genetic testing with known c.3210_3212del (p.Arg1070del) mutation in PHKA2 gene.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

ABSTRACT
Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually manifest recurrent ketotic hypoglycemia with growth delay, but some may present simple hepatomegaly. Although GSD IX is one of the most common causes of GSDs, its biochemical and genetic diagnosis has been problematic due to its rarity, phenotypic overlap with other types of GSDs, and genetic heterogeneities. In our report, a 22-month-old boy with GSD IX is described. No other manifestations were evident except for hepatomegaly. His growth and development also have been proceeding normally. Diagnosed was made by histologic examination, an enzyme assay, and genetic testing with known c.3210_3212del (p.Arg1070del) mutation in PHKA2 gene.

No MeSH data available.


Related in: MedlinePlus