Peripheral neuropathy as the presenting feature of tyrosinaemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase.

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  • Additional Information
    • Source:
      Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium: Print ISSN: 0022-3050 (Print) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE
    • Publication Information:
      Publication: London : BMJ Publishing Group
      Original Publication: London : British Medical Association
    • Subject Terms:
      4-Hydroxyphenylpyruvate Dioxygenase/*antagonists & inhibitors ; Amino Acid Metabolism, Inborn Errors/*complications ; Cyclohexanones/*therapeutic use ; Nitrobenzoates/*therapeutic use ; Peripheral Nervous System Diseases/*drug therapy ; Tyrosine/*blood; Child, Preschool ; Electromyography ; Female ; Humans ; Neural Conduction/physiology ; Peripheral Nervous System Diseases/etiology ; Peripheral Nervous System Diseases/physiopathology
    • Abstract:
      A 21 month old girl presented with a short history of frequent falls and a right sided foot drop. She went on to suffer recurrent episodes of distal weakness in her arms and legs with hyporeflexia. Electrophysiological studies were consistent with inflammatory demyelinating polyradiculoneuropathy (IDP) and treatment with corticosteroids appeared to lead to an improvement. However, the development of hypertension, evidence of tubulopathy, and hepatomegaly led to re-evaluation. A diagnosis of type I tyrosinaemia was made, based on increased urinary excretion of succinylacetone and decreased activity of fumarylacetoacetase in her cultured skin fibroblasts. A low tyrosine diet did not prevent life-threatening exacerbations of neuropathy but intravenous haemarginate appeared to aid her recovery from one exacerbation. An immediate improvement in strength was seen after starting treatment with 2-(2-nitro-4-trifluoro-methyl-benzoyl)-1,3-cyclohexanedione (NTBC), an inhibitor of 4-hydroxy-phenylpyruvate dioxygenase. A liver transplant was performed but the patient died of immediate postoperative complications. Tyrosinaemia needs to be considered in a child with recurrent peripheral neuropathy because (i) the signs of liver disease and renal tubular dysfunction may be subtle; (ii) acute exacerbations may be life threatening; (iii) specific forms of treatment are available.
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    • Accession Number:
      0 (Cyclohexanones)
      0 (Nitrobenzoates)
      42HK56048U (Tyrosine)
      EC 1.13.11.27 (4-Hydroxyphenylpyruvate Dioxygenase)
      K5BN214699 (nitisinone)
    • Publication Date:
      Date Created: 19931001 Date Completed: 19931119 Latest Revision: 20190501
    • Publication Date:
      20240829
    • Accession Number:
      PMC1015246
    • Accession Number:
      10.1136/jnnp.56.10.1129
    • Accession Number:
      8410015