Imidazole syndrome: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
===Symptoms== | ===Symptoms=== | ||
It is characterised by cerebromacular degenration with convulsions, retinitis pigentosa, mental retardation. | It is characterised by cerebromacular degenration with convulsions, retinitis pigentosa, mental retardation. | ||
===Laboratory findings=== | ===Laboratory findings=== | ||
Excessive urinary excretion of carnosine, anserine and histidine is characteristic laboratory finding of imidazole syndrome. | Excessive urinary excretion of carnosine, anserine and histidine is characteristic laboratory finding of imidazole syndrome. | ||
Revision as of 15:41, 21 December 2015
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]
Synonyms and keywords: Bessman-baldwin syndrome
Overview
Imidazole syndrome is a familial disorder of imidazole metabolism described by Samuel bessman and Ruth baldwin. It is characterised by cerebromacular degenration with convulsions, retinitis pigentosa, mental retardation and excessive urinary excretion of carnosine, anserine and histidine.
Historical prospective
Imidazole syndrome is a familial disorder of imidazole metabolism described by Samuel bessman and Ruth baldwin.
Diagnosis
Symptoms
It is characterised by cerebromacular degenration with convulsions, retinitis pigentosa, mental retardation.
Laboratory findings
Excessive urinary excretion of carnosine, anserine and histidine is characteristic laboratory finding of imidazole syndrome.