Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

After confirming the increase of the fragility of the site Xq27 by methotrexate and its decrease by 5-formyltetrahydrofolate, it is observed that L-serine, 5-amino-levulinate and L-4-hydroxy-proline at millimolar concentrations, reduce considerably the frequency of the anomaly in lymphocyte cultures. The possible relationships between this chromosomal marker, the one carbon cycle,and mental deficiency of the patients, are discussed.
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PMID:[Fragile site Xq27 and metabolism of monocarbons]. 677 21

Hydroxyproline is a major constituent of collagen. It accumulates as the free imino acid in a rarely reported inborn error of metabolism known as hydroxyprolinemia. This metabolic disorder was initially described in association with mental retardation, but subsequent identification in clinically normal individuals has led to the supposition that it is benign. The possibility that hydroxyprolinemia might have an adverse effect on cognitive development without producing mental retardation has not been determined nor has its incidence been reported. We prospectively studied a girl with untreated hydroxyprolinemia identified by routine neonatal urine screening, the only infant found among 1 million screened, and compared her with her unaffected dizygotic twin sister. Plasma and urine hydroxyproline were increased approximately 10-fold and 100-fold, respectively, in the affected twin. Both girls have had normal growth, with the affected twin taller than her sister. On neuropsychologic testing, the affected twin was within normal limits, performing slightly better than her sister on verbal and achievement tests but less well on visual perceptual testing. It appears that hydroxyprolinemia has caused no physical or general cognitive deficits. The possibility of an effect on visual perceptual functioning, although unlikely, cannot be eliminated.
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PMID:Hydroxyprolinemia: comparison of a patient and her unaffected twin sister. 906 21