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Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: A biotin‐responsive disorder
Author(s) -
Sander James E.,
Malamud Nathan,
Cowan Morton J.,
Packman Seymour,
Amman Arthur J.,
Wara Diane W.
Publication year - 1980
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410080514
Subject(s) - ataxia , medicine , cerebellar ataxia , atrophy , lactic acidosis , rash , metabolic disorder , pyruvate carboxylase , cerebellum , gait ataxia , pediatrics , endocrinology , biology , psychiatry , biochemistry , enzyme
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 blotin. 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.