Glycogen Storage Disease Type IX due to a Novel Mutation in 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: th...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2020/8836534 |
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| author | Hamza Hassan Khan Lauren Parr Allison Jay Saleem Raza Hernando Lyons Sanjay Kumar |
| author_facet | Hamza Hassan Khan Lauren Parr Allison Jay Saleem Raza Hernando Lyons Sanjay Kumar |
| author_sort | Hamza Hassan Khan |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-6a802895922f4232a28169750c372fca |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-6a802895922f4232a28169750c372fca2025-02-03T01:01:27ZengWileyCase Reports in Pediatrics2090-68032090-68112020-01-01202010.1155/2020/88365348836534Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 GeneHamza Hassan Khan0Lauren Parr1Allison Jay2Saleem Raza3Hernando Lyons4Sanjay Kumar5Department of Pediatrics, Ascension St. John Children’s Hospital, Detroit, MI, USADepartment of Pediatrics, Ascension St. John Children’s Hospital, Detroit, MI, USADepartment of Medical Genetics, Ascension St. John Children’s Hospital, Detroit, MI, USADepartment of Pediatrics, Ascension St. John Children’s Hospital, Wayne State University, School of Medicine, Detroit, MI, USADepartment of Pediatric Gastroenterology, Ascension St. John Children’s Hospital, Wayne State University, School of Medicine, Detroit, MI, USADepartment of Pediatric Gastroenterology, Ascension St. John Children’s Hospital, Wayne State University, School of Medicine, Detroit, MI, USAWe 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.http://dx.doi.org/10.1155/2020/8836534 |
| spellingShingle | Hamza Hassan Khan Lauren Parr Allison Jay Saleem Raza Hernando Lyons Sanjay Kumar Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene Case Reports in Pediatrics |
| title | Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene |
| title_full | Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene |
| title_fullStr | Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene |
| title_full_unstemmed | Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene |
| title_short | Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene |
| title_sort | glycogen storage disease type ix due to a novel mutation in phka2 gene |
| url | http://dx.doi.org/10.1155/2020/8836534 |
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