glycogen storage disease/ataque epiléptico

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Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V.

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Progressive mitral valve thickening and progressive muscle cramps as manifestations of glycogenosis VII (Tarui's Disease).

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Progressive heart valve thickening and shrinkage, and progressive muscle cramps have not been reported as manifestations of glycogenosis type VII (Tarui's disease). In a 72-year-old female, Tarui's disease was diagnosed in 1997, initially manifesting as simple partial seizures since 1977, anginal

Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.

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BACKGROUND Rare inherited metabolic diseases with neurological and gastrointestinal manifestations can be misdiagnosed as other diseases or remain as disorders with indeterminate etiologies. This study aims to provide evidence to recommend the utility of whole exome sequencing in clinical diagnosis

Anaesthetic management of a patient with glycogen storage disease type 1b.

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OBJECTIVE A rare case of a ten-year old patient with type 1b glycogen storage disease (GSD), scheduled for extracorporeal shockwave lithotripsy (ESWL), is described. METHODS Patients with type 1b GSD manifest a range of clinical symptoms, including mental retardation, hepatosplenomegaly, renal

Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism.

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OBJECTIVE The aim of the study was to characterize seizures and epilepsy related to hypoglycaemia. METHODS We analyzed the files of 170 consecutive patients referred for hypoglycaemia (onset 1h to 4y) caused by inborn errors of metabolism (glycogen storage disease type I, fatty acid β-oxidation

Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course.

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Muscle phosphofructokinase deficiency is known to cause childhood-onset exercise intolerance, muscle cramps, and myoglobinuria. Rarely, phosphofructokinase deficiency manifests in infancy as congenital myopathy and arthrogryposis with fatal outcome. Here, the authors report the case of a 2-year-old

Neurologic and cardiac progression of glycogenosis type VII over an eight-year period.

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Little is known about the progression of phosphofructokinase deficiency (glycogenosis type VII, Tarui's disease). We describe a 66-year-old woman who had this disease diagnosed in 1997. Initial manifestations had included simple partial seizures since 1977, anginal chest pain since 1982, and muscle

Epilepsy and electrophysiological findings in polish twins with glycogenosis type IIIb.

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Glycogen storage diseases are rare genetic disorders, mostly autosomal recessively inherited. Abnormal accumulation is because of the lack of one of the enzymes involved in glycogen metabolism. Neurological manifestation of the diseases involves muscle weakness and hypoglycemia-induced seizures. In

Type Ib glycogenosis.

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Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had

[Heterogeneous phenotypes in Chinese glycogen storage disease type Ia patients with homozygous G727T mutation].

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Glycogen storage disease (GSD) type Ia is an autosomal recessive disorder caused by a deficiency of glucose-6-phosphatase (G6Pase). The gene that encodes G6Pase was mapped to 17q21. The molecular genetic basis of GSD type Ia in the mainland Chinese population has not been explored. OBJECTIVE To

The effect of tailoring of cornstarch intake on stature in children with glycogen storage disease type III.

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OBJECTIVE To determine the individual fasting tolerance for patients with glycogen storage disease type III (GSD III) and to assess their linear growth velocity after tailoring of dose intervals of oral uncooked cornstarch. METHODS A prospective cohort study included 32 patients with GSD III aged 6

[Hepatic glycogenosis in childhood: clinical and laboratory findings in 20 patients].

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We studied 20 children with a clinical picture and laboratory study suggestive of hepatic glycogenosis. The age of the beginning of symptoms varied from birth to 24 months and the age at the diagnosis varied from 2 to 81 months. Hepatomegaly was found in all patients, diarrhea in 65% (13/26),

Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.

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A 54-yr-old woman who presented with chest pain and elevated serum creatine kinase levels was found to have type III glycogen storage disease. Except for a history of hepatomegaly in childhood, she was healthy and lived a normal life. There was no hypoglycemia, seizure disorder or growth

Hepatic Glycogenosis In Children: Spectrum Of Presentation And Diagnostic Modalities.

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Objectives of the study were to determine the clinical spectrum of presentation and various modalities helpful in the diagnosis of liver glycogenosis short of genetic analysis.All patients under 18 years of age presenting to Paediatric Gastroenterology unit

Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia.

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BACKGROUND Glycogen storage disease (GSD) type IX and growth hormone (GH) deficiency cause ketotic hypoglycemia via different mechanisms and are not known to be associated. We describe a patient presenting with severe ketotic hypoglycemia found to have both GSD IX and isolated GH

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