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 authors report their experience in populational screenings, first regarding hyperphenylalaninemias at the city of S Paulo, by own programmation. In the same aminoacidopathies detection program, a similar methodology is being used in urine, in the children's health services of the State of S. Paulo. The same urine procedure is being used to select IEM of carbohydrates and mucopolysaccharides A programme similar to the one used for hyperphenylalaninemia is being performed for the detection of congenital hypothyroidism; T4 tests were made by radioimmunoassay (RIA) microtechnique in newborns and children in the first months of life. A similar experience in the detection of heterozygotes for GM2-ganglyosidosis type I (Tay-Sach disease) by performing the hexosaminidase A test is also reported. The importance of the performing of such populational screening tests, even in underdeveloped countries is stressed. Taking into account the high cost of the maintenance of patients with mental retardation (MR0, the cost of such programmes may become a saving whenever early diagnosis and therapy can avoid the MR.
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PMID:[Detection of inborn errors of metabolism in San Pablo, Brazil]. 725 43

Substrate deprivation therapy has been successfully applied in a number of lysosomal storage diseases, such as Gaucher disease. So far only limited experience is available in Sandhoff disease. We initiated substrate deprivation therapy in one male patient, who initially presented at the age of 3.5 years with epilepsy and regression in motor skills and speech development. Juvenile Sandhoff disease was diagnosed on the basis of a decreased hexosaminidase activity in leukocytes and a homozygous HEXB gene mutation. After the epilepsy was controlled, the clinical course remained stable for years, defined by a mild proximal myopathy and stable mental retardation. At 14 years of age the patient experienced a second episode with progressively worsening general condition with diminishing muscle power and progressive ataxia. Treatment was started with the N-alkylated imino sugar miglustat, inhibiting the glucosylceramide synthase, an essential enzyme for the synthesis of glycosphingolipids. Diarrhoea was treated with lactose restriction. We performed detailed biochemical investigations, motor and mental development analysis, brain imaging, organ function studies and quality of life score prior to and at different time points after start of the treatment. Two years after the initiation of therapy the patient has a stable neurological picture without further regression in his motor development, ataxia or intelligence. There is a subjective improvement in the fine motor skills and walking up the stairs but no change in the quality of life score. Under treatment with miglustat the clinical course in our patient with Sandhoff disease did not further deteriorate.
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PMID:Substrate deprivation therapy in juvenile Sandhoff disease. 1989 52