Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three siblings, offspring of normal consanguineous parents, had a progressive neurological disorder characterized primarily by chorea and leading to death in the fourth or fifth decade. The most carefully studied patient had neither malabsorption nor absent serum beta-lipoprotein but did have erythrocyte acanthocytosis. Postmortem examination showed marked neuronal loss and gliosis of the caudate nucleus and putamen. Activities of glutamic acid decarboxylase and choline acetyltransferase were normal in cortex, caudate, and putamen. Autosomal recessive inheritance, acanthocytosis, and probable peripheral neuropathy help differentiate this disorder from Huntington's disease.
 ...
PMID:Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study. 66 66

The prevalence of coeliac disease (CD) in the adult population is unknown because silent and latent stages do exist. Type 1 diabetes mellitus may be associated with CD because of common genetic background and/or shared pathogenetic mechanisms. We investigated 74 adults with type 1 diabetes (32+/-11 yr, disease duration 13+/-9 yr), 69 parents of diabetic probands (56+/-10 yr), 59 siblings (30+/-11 yr) and 50 healthy controls (35+/-10 yr) for the presence of circulating islet cell antibodies (ICA), anti-glutamic acid decarboxylase antibodies (GADA65), anti-gliadin immunoglobulins A and G (IgA- and IgG-AGA). All patients with raised AGA, performed also IgA anti-endomysium antibody (EmA) indirect immunofluorescence assay. Samples were positive for ICA in 19 diabetics (26%), 4 parents (6%), 4 siblings (7%), 0 controls (p<0.001); for GADA in 34 diabetics (46%), 4 parents (6%), 1 sibling (2%), 0 controls (p<0.001). Twenty-five diabetic patients (34%), 10 parents (14%), 5 siblings (8%), 3 controls (6%) (p<0.001) had raised IgA-AGA (>4.4 mg/l). Four diabetic patients (5%), 5 parents (7%), 0 siblings (0%), 4 controls (8%) had raised IgG-AGA (>18 mg/l). Both IgA- and IgG-AGA were detected in 1 diabetic and 2 parents. The prevalence of ICA, GADA, and IgA-AGA positivity in Type 1 diabetes patients was significantly higher than in controls (p<0.001). Finally, 50 AGA-positive subjects performed EmA test: only 2 of them resulted EmA-positive, a diabetic patient and a sibling. The patient with Type 1 diabetes had a small-bowel biopsy specimen consistent with CD and, as sole evidence of malabsorption, sideropenic anaemia. EmA-positive sibling also showed severe iron deficiency, yet refused endoscopy. We conclude that: 1) CD cannot be diagnosed on the basis of associated IgA- and IgG-AGA alone. Nevertheless, detection of such antibodies is useful, in combination with EmA, in screening for endoscopic biopsy; 2) too high rate of detection of IgA-AGA in Type 1 diabetic patients in comparison with other groups excludes a false positivity of the test itself, while suggests a pathogenetic association of both immunological disorders, perhaps related to abnormal gammadelta TCR-bearing intraepithelial lymphocytes.
 ...
PMID:Screening for coeliac disease in families of adults with Type 1 diabetes based on serological markers. 1134 64