Article
Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency.
European journal of pediatrics - 1 Dec 1997
Cohen L H, Vamos E, Heinrichs C, Toppet M, Courtens W, Kumps A, Mardens Y, Carlsson B, Grillner L, Larsson A
Abstract excerpt
UNLABELLED: Two female siblings, born to consanguineous parents, presented with a similar phenotype characterized by severe growth and developmental failure, dysmorphic features, thyroid and gonadal dysfunction, autistic traits and hand stereotypes resembling Rett syndrome. In the elder patient, analysis of urinary organic acids disclosed a very high excretion of 5-oxoproline (4.2 to 8.1 mol/mol creatinine) and...
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