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342 Possible Causes for Glycogen Storage Disease Type 2, Splenomegaly

  • Cardiomegaly

    More similar words: acromegaly , hepatomegaly , splenomegaly , cardiomyopathy , cardiology , cardiogram , legal guardian , cardiograph , cardiogenic , cardiologist , cardiovascular[] Glycogen storage disease type 2 Myocardial fibroelastosis Primary tumors of the heart Drugs such as doxorubicin Acromegaly Age related Apart from the etiological factors,[] Splenomegaly, Cardiomegaly, and Osteoporosis in a Child with Gaucher Disease.[]

  • Niemann-Pick Disease Type B

    Most patients initially presented with splenomegaly (78%) or hepatomegaly (73%).[] We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen on liver biopsy specimens[] Published Journal Article We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen[]

  • Chylomicronemia Syndrome

    […] recurrent episodes of pancreatitis the characteristic lesions of the hyperchylomicronemia syndrome, such as eruptive xanthomas and lipemia retinalis, were not present and splenomegaly[] […] levels - High lactante and triglycerides - Hyperuricemia Glycogen storage disease type 2 (Pompe) - Afected glycogen degradation process - Acid alfa glicosidase deficiency[] Eye fundus examination found lipemia retinalis , and abdominal palpation revealed hepatomegaly with no splenomegaly.[]

  • Glycogen Storage Disease Type 2

    Patients have also organomegaly (hepatomegaly, splenomegaly, macroglossia) and feeding difficulties.[] Glycogen storage disease type 2 , also known as Pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder . [1] [2] [3] While glycogen storage disease[] […] ale starii generale, febra F dureri toracice, lombare, ale membrelor, urina inchisa la culoare F insuficienta renala, cardiaca, simptome cerebrale, deces precoce è copii - splenomegalie[]

  • Glycogen Storage Disease due to Liver Phosphorylase Kinase Deficiency

    0 (Glycogen synthase deficiency) Type IV or Anderson’s disease (Hepatomegaly may be absent and death is early, i.e. in 2 years due to early cirrhosis) Hepatomegaly with splenomegaly[] […] deficiency Glycogen storage disease Glycogen storage disease type III Glycogen storage disease type VIII Glycogen storage disease, type 1 Glycogen storage disease, type 2[] […] manifesting as a variant nonprogressive or a neuromuscular form) Clinical features: Hepatomegaly with progressive cirrhosis and hypoglycemia, esophageal varices, and ascites; splenomegaly[]

  • Hepatocellular Adenoma

    If malignant transformation occurs, symptoms resemble those of hepatocellular carcinoma, such as weight loss, pruritus, encephalopathy symptoms, splenomegaly, variceal bleeding[] Incidence of adenomas may be increased in metabolic diseases, including tyrosinemia and type 1 diabetes mellitus , and glycogen storage diseases (types 1 and 3), as well[] storage disease types Ia and III, Fanconi anemia, thalassemia, familial adenomatous polyposis, familial diabetes mellitus, Hurler disease, galactosemia or tyrosinemia; also[]

  • Proteinuria

    The clinical course was marked by persistent fever for 2 months, pleural and pericardial effusion, splenomegaly, lymphadenopathy, pancytopenia, cardiac arrhythmias, multiple[] "Type 1 Glycogen Storage Diseases: Disorders of the Glucose-6-Phosphatase Complex". Current Molecular Medicine . 2 (2): 121–143. doi : 10.2174/1566524024605798 .[] storage disease type 1 [9] Goodpasture's syndrome Henoch–Schönlein purpura A urinary tract infection which has spread to the kidney(s) Sjögren's syndrome Post-infectious[]

  • Leukopenia

    Abstract In 1924 Felty 1 reported the cases of five adults who had atrophic arthritis associated with splenomegaly and leukopenia.[] Glycogen storage disease Ib - Glycogen storage disease Ib is an autosomal recessive disease caused by mutations in glucose-6-phosphatase translocase, which inhibits the neutrophil[] […] code for any associated:fever (R50.81) mucositis (J34.81, K12.3-, K92.81, N76.81) Includes: agranulocytosis decreased absolute neurophile count (ANC) Excludes1: neutropenic splenomegaly[]

  • Renal Tubular Dysfunction

    Ultrasonogram of the abdomen revealed nephrocalcinosis and splenomegaly.[] Proximal Renal Tubular Function Table 2. Table 2. Proximal Renal Tubular Function in the Patients with Type I Glycogen Storage Disease.[] Detailed work up for anemia was initiated because of associated splenomegaly and nephrocalcinosis.[]

  • Renal Tubular Acidosis

    Abdominal examination revealed splenomegaly and ophthalmic examination showed presence of Kayser-Fleischer (K-F) rings.[] ), aminoglycosides Familial (cystinosis, tyrosinemia, hereditary fructose intolerance, galactosemia, glycogen storage disease type I, Wilson disease, Lowe syndrome, inherited[] Hemolytic anemia can lead to unusually pale skin (pallor), extreme tiredness (fatigue), shortness of breath (dyspnea), and an enlarged spleen (splenomegaly).[]

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