Glycogen storage disease type I a: Frequency and clinical course in Turkish children

Abstract

The aim of this study was to determine the relative frequency of type Ia in glycogen storage disease (GSD) with prominent liver involvement and to determine its clinical and laboratory findings and prognosis in Turkish children. From 1980 to 1998, 45 out of 100 GSD patients (27 male) with liver involvement had been diagnosed for type Ia. The files were retrospectively evaluated and clinical and laboratory features were documented. In addition to routine laboratory evaluations, urine albumin, calcium excretions, and plasma biotinidase activity were measured. Breast-feeding was continued in all infants. After 6 months of age, uncooked cornstarch was administered to the patients. The relative frequency of type Ia in GSD with liver involvement was 45%. The diagnosis was made in 71% of patients before 2 years of age (median 1 year). Main complaint was abdominal protruding (57.8%), and main physical finding was hepatomegaly (100%). Forty percent of the patients had growth retardation at diagnosis. Among laboratory parameters, hypertriglyceridemia (97.8%) and hypertransaminasemia (95.6%) were the most frequent findings following plasma biotinidase activity, which was elevated in all patients. Microalbuminuria was determined in 52.8% of the patients and hypercalciuria in 23.8%. Histopathological findings of the liver included fibrosis (75.6%), steatosis (37.8%), mosaicism (24.4%) and nuclear hyperglycogenation (15.6%). During follow-up period, the ratio of patients with growth retardation did not change. Transaminases were decreased in 48.7% of the patients. Although triglyceride and cholesterol levels decreased in the majority of the patients, they did not normalise. The prevalence of type Ia in GSD with prominent liver involvement was found higher than the other reports. Microalbuminuria was also higher than the previous reports.

Liver Storage Disease in Iran: A Ten Year Study of Liver Biopsies in Children Medical Center Hospital in Tehran-Iran

“…However, liver biopsies may bias this finding, because the liver must have been involved to have been included in our study. Other manifestations, including neurologicall abnormalities and dysmorphic features, were also present in our patients, which is consistent with many studies [1][2][4][5][8][10][11]. The laboratory findings of our study are consistent with several others, and it is not surprising that hypoglycemia was not observed in LSD.…”

“…For example, in GSD type Ia, hypoglycemia and acidosis are the most striking features, rather than abnormal liver enzymes and features of liver failure, such as jaundice. In GSD type IV, abnormal transaminase is a prominent feature, along with hepatomegaly [10][12]. As another example, Gaucher disease primarily involves bone and bone marrow, thus leading to cytopenia [13].…”

“…All are inherited as autosomal recessive disorders, except for phosphoglycerate kinase deficiency and one form of phosphorylase kinase deficiency, which are X-linked disorders. Hypoglycemia is a common primary manifestation in most of GSDs [1][10]. Overall, the clinical and laboratory features of liver storage diseases are hypoglycemia, physical and mental retardation, changes in blood lactate, triglycerides, cholesterol , transaminases and uric acid, muscular problem, jaundice, glaucoma, neurologic, renal, or muscular degeneration, unexplained hepatomegaly, splenomegaly, cardiomyopathy, and skeletal dysplasias and deformations [1][2][3][5].…”

Glikojen depo tip 1a ve tip 1b olgularında klinik özellikler ve hastalığın seyri

“…Saltık ve ark. (13), 2000 yılında 45 Türk GDH 1a tanılı hastada yaptıkları çalışmada, anne baba arasında akrabalık %77,8 saptanmıştır. Benzer şekilde, çalışmamıza katılan GDH 1 tanılı hastaların anne babası arasında %73,3 gibi yüksek bir oranda akrabalık ve %30 oranında ailede GDH 1 tanısı almış birey olduğu saptanmıştır.…”

“…Glikojen depo hastalığı 1'de özellikle okul çağında dikkati çeken orta derecede büyüme geriliği hastaların çoğunda gözlenen önemli bir bulgudur ve erişkin hastalar arasında kısa boy yaygındır (13,23,24). Parscau ve ark.…”