The first case of the FRAXE form of inherited mental retardation in Croatia

Hećimović<, Silva; Bago, Ružica; Mužinić, Dubravka; Begović, Davor; Pavelić, Krešimir

doi:10.1007/s00431-001-0876-6

Cited by 3 publications

(2 citation statements)

References 3 publications

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“…Infants who have not been diagnosed before are presenting with hepatomegaly at 3 to 6 months of age [2]. In these patients, hepatomegaly occurs due to glycogen and fat storage [7].…”

Section: Discussionmentioning

confidence: 99%

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A novel mutation in a newborn baby leading to glycogen storage disease type Ia

Dorum

Görükmez

2018

Balkan Journal of Medical Genetics

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Glycogen storage disease type Ia (GSD1A) is caused by mutations in the G6PC gene. The G6PC gene was first cloned in 1993. Since then, many different mutations have been identified leading to this disease. Hepatomegaly is one of the important clinical manifestations of the disease. A 23-day-old girl was admitted to the hospital due to respiratory distress. Her physical examination was normal except for tachypnea. She had hypoglycemia, lactic academia, hyperlipidemia and hyperuricemia. With these clinical findings, GSD1A was considered in the patient and the diagnosis was genetically confirmed. By direct sequencing of the G6PC gene, we identified a novel homozygous variation (c.137T>G/p.Leu46Arg) in the patient and the healthy mother and father were heterozygotes for the variant. Here we present a case with a novel homozygous missense mutation c.137T>G/p.Leu46Arg in the G6PC gene leading to GSD1A clinical findings except early hepatomegaly. These findings expand the spectrum of causative mutations, and clinical findings in GSD1A.

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“…Infants who have not been diagnosed before are presenting with hepatomegaly at 3 to 6 months of age [2]. In these patients, hepatomegaly occurs due to glycogen and fat storage [7].…”

Section: Discussionmentioning

confidence: 99%

“…Dietary treatment improves the quality of life of the patients and may prevent complications [6]. Our patient’s diet was regulated according to the European Study on Glycogen Storage Disease Type I recommendations [7].…”

Section: Discussionmentioning

confidence: 99%

A novel mutation in a newborn baby leading to glycogen storage disease type Ia

Dorum

Görükmez

2018

Balkan Journal of Medical Genetics

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AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease

Dick

Kumar

Horsfield

et al. 2012

Clinical Kidney Journal

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Type 1 glycogen storage diseases (GSD) are inherited metabolic diseases caused by defects in the activity of the glucose-6-phosphate transporter. We present the case of a 40-year-old male with glycogen storage disease type 1b (GSD1b) who was referred to our nephrology service for evaluation of his chronic kidney disease and found to have AA amyloid deposition on renal biopsy. Amyloid is a described complication of GSD1b. As the treatment of GSD has improved, patients are surviving longer and are now presenting more frequently to adult services. It is important that clinicians are aware of the possible renal complications of GSD1b.

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Benign Hepatocellular Tumors in Children: Focal Nodular Hyperplasia and Hepatocellular Adenoma

Franchi‐Abella

Branchereau

2013

International Journal of Hepatology

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Benign liver tumors are very rare in children. Most focal nodular hyperplasia (FNH) remain sporadic, but predisposing factors exist, as follows: long-term cancer survivor (with an increasing incidence), portal deprivation in congenital or surgical portosystemic shunt. The aspect is atypical on imaging in two-thirds of cases. Biopsy of the tumor and the nontumoral liver is then required. Surgical resection will be discussed in the case of large tumors with or without symptoms. In the case of associated vascular disorder with portal deprivation, restoration of the portal flow will be discussed in the hope of seeing the involution of FNH. HepatoCellular Adenoma (HCA) is frequently associated with predisposing factors such as GSD type I and III, Fanconi anemia especially if androgen therapy is administered, CPSS, and SPSS. Adenomatosis has been reported in germline mutation of HNF1-α. Management will depend on the presence of a predisposing factor and may include metabolic control, androgen therapy withdrawn, or closure of the shunt when appropriate. Surgery is usually performed on large lesions. In the case of adenomatosis or multiple lesions, surgery will be adapted. Close followup is required in all cases.

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The first case of the FRAXE form of inherited mental retardation in Croatia

Cited by 3 publications

References 3 publications

A novel mutation in a newborn baby leading to glycogen storage disease type Ia

A novel mutation in a newborn baby leading to glycogen storage disease type Ia

AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease

Benign Hepatocellular Tumors in Children: Focal Nodular Hyperplasia and Hepatocellular Adenoma

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