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Natural history of glutaric aciduria type 1
  1. JANE COLLINS
  1. Metabolic Unit
  2. Great Ormond Street Hospital, London, UK
  3. Biochemistry, Endocrinology, and Metabolism Unit
  4. Institute of Child Health, London, UK
    1. J V LEONARD
    1. Metabolic Unit
    2. Great Ormond Street Hospital, London, UK
    3. Biochemistry, Endocrinology, and Metabolism Unit
    4. Institute of Child Health, London, UK

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      Editor,—In their retrospective study, Monavari and Naughten (Arch Dis Child2000;82:67–70) suggest that early intensive management can alter the natural history of glutaric aciduria type 1. However, the pathogenesis of this disorder is poorly understood and just what is responsible for the better outcome is not clear. In several families in which the first child has the classical phenotype, we have noted a marked difference in outcome of siblings without any specific treatment.

      Family 1—In this Jordanian family the first child had a severe movement disorder and died. The second has macrocephaly and mild gait disturbance but is attending normal school.

      Family 2—This first child of Nigerian and West Indian parents has a severe dyskinetic cerebral palsy. Her sister has minimal symptoms and attends a normal school.

      Family 3—This family are Irish travellers and they have had three affected children. The first died with a severe movement disorder and the third, although he was known to be at risk, had an episode of decompensation at 6 weeks. He developed a severe movement disorder and died suddenly and unexpectedly at the age of 13 months. The second child has had some speech delay but has minimal problems and attends a normal school.

      None of these children were receiving any specific dietary treatment or medication. While we would agree that early diagnosis is essential, the diet is a significant imposition and all that may be needed is intensive treatment during intercurrent infections.

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