Abstract
A 3 year old mentally retarded boy with convulsions and a disturbed motor, speech and social development is presented. A persistent hyperlysinaemia, lysinuria and saccharopinuria was found. Treatment with a diet restricted in lysine seems favourable.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Amino Acid Metabolism, Inborn Errors / blood*
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Amino Acid Metabolism, Inborn Errors / complications
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Amino Acid Metabolism, Inborn Errors / diet therapy
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Child, Preschool
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Humans
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Intellectual Disability / etiology
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Lysine / blood*
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Male
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Muscle Hypertonia / etiology