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Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
Ann Neurol 1980; 8(5):544-7AN

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.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -