Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A cross-sectional survey on the prevalence of hepatitis B serologic markers and hepatitis B virus DNA was performed in a population of 493 mentally handicapped males. Special interest was focused on age-related variables such as age at entry into the institution and on duration of residency. Furthermore, the differences with regard to the prevalence of hepatitis B markers found in Down's syndrome residents and other mentally retarded persons were analyzed. In a longitudinal study, the impact of the presence of hepatitis B virus DNA in serum was studied. Overall, 62.1 per cent of residents had serologic evidence of infection with hepatitis B virus, while 16.7 per cent of those residents with markers of infection were positive for hepatitis B surface antigen (HBsAg). Hepatitis B virus DNA was found in 24 per cent of HBsAg carriers (all positive for hepatitis B e antigen (HBeAg). In residents whose age at entry was less than 15 years, those with Down's syndrome were more often carriers of HBsAg than other mentally retarded residents. In addition, Down's syndrome residents more often had serum hepatitis B virus DNA compared with residents with other forms of mental retardation. A young age at entry was recognized as an important factor with regard to the prevalence of hepatitis B markers. From the longitudinal studies, it appeared that loss of hepatitis B virus DNA from serum indicated imminent loss of HBeAg and normalization of alanine aminotransferase values. Knowledge of the hepatitis B virus DNA status of HBsAg carriers in these institutions may therefore provide a valuable tool in attempts to reduce the transmission of this infection.
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PMID:Hepatitis B virus infection in an institution for the mentally retarded. 297 Jul 93

Canavan disease (CD) is an autosomal recessive disorder caused by aspartoacylase deficiency leading to accumulation of N-acetylaspartic acid and spongy degeneration of the brain. The mouse model for CD showed low levels of glutamate and gamma-aminobutyric acid (GABA) in the brain. Whether the low levels of glutamate and GABA observed in the CD mouse brain lead to abnormal production of glutamate-GABA associated enzymes and resulting succinate production is not obvious. While glutamate dehydrogenase and alpha-ketoglutarate dehydrogenase complex activities are lower in the cerebellum and brain stem of the CD mouse, alanine aminotransferase and succinate semialdehyde dehydrogenase (SSADH) activities and succinate level are similar to the levels observed in the wild type. Deficiency of SSADH has been suggested to be associated with mental retardation and hypotonia, similar to the clinical features of CD. The normal SSADH activity in the CD mouse brain suggests that mental retardation and hypotonia seen in the CD mouse is not due to SSADH activity and if documented also in patients with CD.
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PMID:Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency. 1501 27

Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils, and was first described by Dorfman in 1974. Due to a mutation in the ABHD5 gene of the short arm of chromosome 3, lipid is stored in the granulocytes at various sites in the human body, such as the muscle, liver, eye, ear, central nervous system, and bone marrow. Clinically, the disease is presented with ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation. A 38-year-old male patient was referred to our Internal Medicine Clinic for consultation with laboratory findings as follows: high aspartate aminotransferase (AST; 203 U/L), alanine aminotransferase (ALT; 151 U/L), gamma-glutamyl transferase (GGT; 167 U/L), creatine kinase (CK; 1127 U/L) levels and low platelet levels (108000). After ultrasonography and gastroscopy, the patient was diagnosed with liver cirrhosis. Bilateral mixed-type hearing loss on audial tests and bilateral punctuate keratopathy, ectropion, and cataract in the left eye on ophthalmological tests were found. For the definitive diagnosis of Chanarin Dorfman syndrome, peripheral blood was examined, which revealed lipid accumulation in the neutrophils (Jordan's anomaly). We emphasize that if a patient has unusual findings, such as ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation, the possibility of Chanarin Dorfman syndrome should be considered.
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PMID:Chanarin-Dorfman syndrome. 3045 58