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)

In this paper nine patients with mucolipidosis II (I-cell disease) are described. They had clinical features commonly found in mucolipidosis II, including disproportionate dwarfism, coarse facial features and mental retardation. However, there was remarkable variability in age of onset, organ manifestation and radiological findings. Some had unusual clinical symptoms including pericardial effusion and profound brain atrophy. Striking differences in phenotypic expression were also seen in two affected siblings. Clinical heterogeneity is observed not only in mucolipidosis II but also in many other lysosomal storage disorders. The factors that may contribute to this clinical diversity are discussed.
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PMID:Inter- and intrafamilial variability in mucolipidosis II (I-cell disease). 762 21

A new group of recessively inherited metabolic disorders affecting glycoprotein metabolism has been identified--the carbohydrate-deficient-glycoprotein (CDG) syndromes. Here the course and clinical expression of CDG syndrome type I in 13 patients who have passed the age of 15 years are described. All presented with early onset psychomotor retardation, in most cases combined with slight facial dysmorphic features, some degree of hepatic dysfunction, and in one case, pericardial effusion. About half of the patients had subcutaneous lipodystrophy and comatose or stroke-like episodes during childhood. After the age of 15 the disease was mainly characterised by neurological symptoms consisting of non-progressive ataxia associated with cerebellar hypoplasia, stable mental retardation, variable peripheral neuropathy, and strabismus. One third of the patients had generalised seizures, usually sporadic, and all had retinal pigmentary degeneration. In all cases there was more or less pronounced thoracic deformity and no female had passed puberty. Also, the oldest female showed premature aging. Severe internal organ symptoms, which are common in pediatric patients, were absent. All patients had highly raised serum concentrations of the biochemical marker carbohydrate-deficient transferrin, which can be used to verify the diagnosis. It is concluded that after childhood, CDG syndrome type I is a largely non-progressive disease compatible with a socially functioning but dependent lifestyle.
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PMID:Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. 820 22

Infection with rubella virus during pregnancy, especially during the first trimester, can result in congenital rubella syndrome (CRS). Serious manifestations of CRS include deafness, cataracts, cardiac defects, mental retardation, and death. In the last major rubella epidemic in the United States, during 1964-1965, an estimated 12.5 million rubella virus infections resulted in 11,250 therapeutic or spontaneous abortions, 2,100 neonatal deaths, and 20,000 infants born with CRS. In 2004, after implementation of a universal vaccination program, elimination of endemic rubella virus transmission was documented in the United States; evidence also suggests that endemic rubella has been eliminated in the entire World Health Organization (WHO) Region of the Americas. However, rubella virus continues to circulate elsewhere in the world, especially in regions where rubella vaccination programs have not been established (e.g., the African Region), placing the United States at risk for imported cases of rubella and CRS. During 2004-2012, 79 cases of rubella and six cases of CRS were reported in the United States; all of the cases were import-associated or from unknown sources. Of the three cases of CRS that occurred in 2012, conditions included cardiac defects, cataracts, hearing impairment, and pericardial effusion in one infant; patent ductus arteriosus, cardiomegaly, thrombocytopenia, and pneumonitis in a second infant; and cataracts, thrombocytopenia, and cardiac defects in a third infant. All three mothers had been in Africa early in their pregnancies. While rubella remains endemic elsewhere in the world, imported CRS will continue to be a public health concern in the United States.
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PMID:Three cases of congenital rubella syndrome in the postelimination era--Maryland, Alabama, and Illinois, 2012. 2353 89