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Familial neurodegenerative disorder associated with raised urinary vanillylmandelic acid.
  1. I Young,
  2. G P Hosking

    Abstract

    We report a child who presented with a progressive neurological disorder associated with hypertension and paroxysms of irritability and sweating in whom an abnormality of catecholamine metabolism or excretion was demonstrated. An elder sister died at the age of 2 1/2 years with similar clinical symptoms but without blood pressure or catecholamine excretion being recorded. The exact mechanism of the disturbance of catecholamine excretion was not identified in our patient but some slight improvement in hypertension and arrest of his neurological deterioration was noted when he was put on a low tyramine diet. It is suggested that our patient may well suffer from a familial neurodegenerative disorder in which an abnormality of catecholamine metabolism or excretion is a feature.

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