Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib
نویسندگان
چکیده
منابع مشابه
A case of glycogen storage disease type Ib
We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than 500/μL by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp). (Korean J Pediatr 200...
متن کاملGlycogen Storage Disease type Ib: a paediatric case report.
AIM This paper addresses the need of the dental literature to document cases of Glycogen Storage Disease (GSD) type Ib with focus on the paediatric management of oral and dental problems and the potential complications arising from the increased susceptibility to bacterial infections, cariogenicity, and blood diathesis. METHODS Previous medical and dental papers on GSD type Ib published from ...
متن کاملA novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia
Glycogen storage disease type Ib (GSD Ib) [MIM 232220] is caused by mutations in the gene encoding microsomal glucose-6-phosphate translocase (G6PT) (Veiga-DaCunha et al, 1998). This solute carrier family 37, member 4 gene (SLC37A4) is located on chromosome 11q23.3 and encodes a 429 amino acid polypeptide (Veiga-Da-Cunha et al, 1998). This protein transports glucose-6-phosphate into the endopla...
متن کاملA first description of chronic arthritis and uveitis in an adolescent girl with glycogen storage disease
Purpose Glycogen storage disease (GSD) type 1a is an autosomal recessive inborn error of carbohydrate metabolism which affects glycogenolysis and gluconeogenesis. Severe fasting hypoglycemia and secondary biochemical abnormalities such as hyperuricemia occur. Molecular analysis differentiates GSD type 1 into different clinical phenotypes, of which Type 1b but not Type 1a, is associated with inf...
متن کاملClinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly
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 d...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2019
ISSN: 1757-790X
DOI: 10.1136/bcr-2019-230660