glycogen storage disease/癲癇性発作

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

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

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

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 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

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

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 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

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

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

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),

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

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