Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene.
Journal
Case reports in pediatrics
ISSN: 2090-6803
Titre abrégé: Case Rep Pediatr
Pays: United States
ID NLM: 101581030
Informations de publication
Date de publication:
2020
2020
Historique:
received:
19
05
2020
revised:
05
09
2020
accepted:
14
09
2020
entrez:
5
10
2020
pubmed:
6
10
2020
medline:
6
10
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33014498
doi: 10.1155/2020/8836534
pmc: PMC7520001
doi:
Types de publication
Case Reports
Langues
eng
Pagination
8836534Informations de copyright
Copyright © 2020 Hamza Hassan Khan et al.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
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