Tags

Type your tag names separated by a space and hit enter

Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.

Abstract

A small group of inborn errors of metabolism are manifested by intermittent cerebellar ataxia. We have previously reported a family with an inherited metabolic defect resulting in multiple carboxylase deficiencies which were responsive to pharmacological doses of biotin. Affected children presented with a skin rash, infections, acute intermittent ataxia, and lactic acidosis. Two affected siblings died prior to diagnosis and therapy, and a detailed postmortem examination was performed on one of them. The brain was characterized by atrophy restricted to the superior vermis of the cerebellum, a finding strikingly similar to that found in chronic alcoholism. Intermittent ataxia would suggest a potentially treatable metabolic disease, and clinical evaluation should include studies of intermediary metabolism and immune function.

Links

  • Publisher Full Text
  • Authors

    , , , , ,

    Source

    Annals of neurology 8:5 1980 Nov pg 544-7

    MeSH

    Biotin
    Carboxy-Lyases
    Cerebellar Ataxia
    Cerebellum
    Child, Preschool
    Female
    Humans
    Immunologic Deficiency Syndromes
    Infant
    Male

    Pub Type(s)

    Case Reports
    Journal Article
    Research Support, Non-U.S. Gov't
    Research Support, U.S. Gov't, P.H.S.

    Language

    eng

    PubMed ID

    7436398

    Citation

    Sander, J E., et al. "Intermittent Ataxia and Immunodeficiency With Multiple Carboxylase Deficiencies: a Biotin-responsive Disorder." Annals of Neurology, vol. 8, no. 5, 1980, pp. 544-7.
    Sander JE, Malamud N, Cowan MJ, et al. Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder. Ann Neurol. 1980;8(5):544-7.
    Sander, J. E., Malamud, N., Cowan, M. J., Packman, S., Amman, A. J., & Wara, D. W. (1980). Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder. Annals of Neurology, 8(5), pp. 544-7.
    Sander JE, et al. Intermittent Ataxia and Immunodeficiency With Multiple Carboxylase Deficiencies: a Biotin-responsive Disorder. Ann Neurol. 1980;8(5):544-7. PubMed PMID: 7436398.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder. AU - Sander,J E, AU - Malamud,N, AU - Cowan,M J, AU - Packman,S, AU - Amman,A J, AU - Wara,D W, PY - 1980/11/1/pubmed PY - 1980/11/1/medline PY - 1980/11/1/entrez SP - 544 EP - 7 JF - Annals of neurology JO - Ann. Neurol. VL - 8 IS - 5 N2 - A small group of inborn errors of metabolism are manifested by intermittent cerebellar ataxia. We have previously reported a family with an inherited metabolic defect resulting in multiple carboxylase deficiencies which were responsive to pharmacological doses of biotin. Affected children presented with a skin rash, infections, acute intermittent ataxia, and lactic acidosis. Two affected siblings died prior to diagnosis and therapy, and a detailed postmortem examination was performed on one of them. The brain was characterized by atrophy restricted to the superior vermis of the cerebellum, a finding strikingly similar to that found in chronic alcoholism. Intermittent ataxia would suggest a potentially treatable metabolic disease, and clinical evaluation should include studies of intermediary metabolism and immune function. SN - 0364-5134 UR - https://www.unboundmedicine.com/medline/citation/7436398/Intermittent_ataxia_and_immunodeficiency_with_multiple_carboxylase_deficiencies:_a_biotin_responsive_disorder_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0364-5134&date=1980&volume=8&issue=5&spage=544 DB - PRIME DP - Unbound Medicine ER -