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Biotin‐related abnormalities in human metabolism
Author(s) -
Nyhan William L.
Publication year - 1984
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/bies.950010208
Subject(s) - biotin , biotin deficiency , enzyme , biology , medicine , bioinformatics , genetics , biochemistry
Recent work has led to the discovery that two severe hereditary human pathologies are caused by biotin deficiency. Significantly, administration of pharmacologic doses of biotin can provide clinically effective treatment. Both diseases are autosomal recessive in inheritance but differ in their associated enzymatic deficiencies. The clinical, enzymatic, and genetic characteristics of these pathologies are reviewed here.