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)

The most common inborn error of glycoprotein catabolism appears to be aspartylglycosaminuria (AGU). It is characterized by deepening mental retardation, progressive lesions of connective tissue, and increased urinary excretion of aspartyglycosylamine. The first symptoms usually appear after 3 years of age and closely resemble those of Hurler's disease. The condition is a hereditary lysosomal storage disease due to a defective enzyme. The main clinical findings in a infantile type of neuronal ceroid-lipofuscinosis (INCL) are psychomotor retardation, visual failure, and a virtually isoelectric E.E.G. at the final stage of the disease. The symptoms of this hereditary disorder first appear between 8 and 18 months of age and the mean age at death is 6.5 years. Striking cerebral and cerebellar atrophy, together with neuronal loss and accumulation of lipofuscin-like material, can be observed at neuropathological examination.
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PMID:Recent findings on some "new" neurometabolic diseases. 103 35

Two members of a consanguineous Japanese family with a clinical picture of aspartylglycosaminuria (AGU) are described. Both patients exhibited mental retardation, coarse facial features, angiokeratoma and myoclonic seizures. Biochemical studies showed elevated excretion of urinary sialyloligosaccharides and decreased activity of aspartylglycosaminidase in lymphoblasts. Morphologic studies of skin biopsy specimens showed many clear vacuoles mainly in the vascular endothelial cells and secretory cells of the sweat glands. Osmiophilic lamellar cytoplasmic inclusions were also noted in the ganglion cells in rectal biopsy. The ethnic distribution of AGU may be more widespread than previously suspected and appears not to be restricted to Finnish populations. Ours are the first Japanese patients diagnosed as AGU. We conclude that AGU should also be included in the differential diagnosis of mentally retarded patients in Asian countries.
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PMID:Two Japanese cases with aspartylglycosaminuria: clinical and morphological features. 175 4

A high prevalence of the lysosomal storage disease aspartylglycosaminuria was found in a study of four birth cohorts of 12882 children in eastern Finland. Using school achievement tests and registers of mentally retarded individuals, 178 mentally retarded children were identified. Randomized urine samples from 151 of the 178 retarded children and from 101 healthy children were analyzed quantitatively for aspartylglucosamine by high-performance liquid chromatography. The results identified three affected individuals in the retarded group indicating an exceptionally high prevalence of aspartylglycosaminuria (1:3643) in the study population, consistent with a carrier frequency of 1:30. The 95% confidence limits for the prevalence are 1:4 352-1:16389. This is the highest prevalence described for any glycoproteinosis in any population and comparable to the incidence figures of the most common lysosomal storage diseases, Gaucher disease type I and Tay-Sachs disease among Ashkenazi Jews. In the study group, aspartylglycosaminuria was, after trisomy 21 (n = 19) and the fragile X syndrome (n = 6), the most common genetic cause for mental retardation.
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PMID:High prevalence of aspartylglycosaminuria among school-age children in eastern Finland. 186

Two members of a consanguineous Italian family are described with the symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multivacuolated lymphocytes. Enzyme studies in leucocytes and cultured fibroblasts showed an absence of aspartylglucosaminidase activity. Urinary analysis demonstrated abnormal oligosacchariduria and aspartylglycosamine excretion. Angiokeratoma corporis diffusum was observed in one patient.
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PMID:Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family. 678 30

Two members of a consanguineous Italian family are described with symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multi-vacuolated lymphocytes. Enzyme studies in leukocytes showed an absence of aspartylglucosaminidase activity. Urine analysis demonstrated abnormal oligosacchariduria. Angiokeratoma corporis diffusum was observed in one patient. The disease is seen as not being limited to Scandinavia or to patients of Scandinavian descent.
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PMID:Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics. 679 77

The causes of mental retardation (MR) were studied as part of a multidisciplinary epidemiological case-control study in 151 mentally retarded patients identified by screening four age cohorts (12,882 children) at 8-9 years of age in the province of Kuopio, Finland. The causes of MR in 77 severely retarded (SD < or = -3 SD) and 74 mildly retarded (-2 > SD > -3) children were divided into pre-, peri-, postnatal and unknown groups according to the probable time of onset. The causes were pre-, peri-, postnatal and unknown in 60%, 9%, 8% and 23%, and 22%, 1%, 3% and 74%, in the two populations, respectively. Genetic causes were found in 28% of all 151 cases; the three most common subgroups were trisomy 21, fragile X syndrome and aspartylglycosaminuria (13%, 4% and 2% respectively). The study design used provided reliable information on the causes of MR and also demonstrated those forms of genetic metabolic diseases typical of Finnish inheritance.
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PMID:A population-based study on the causes of mild and severe mental retardation. 778 Feb 46