Imidazole syndrome: Difference between revisions

Jump to navigation Jump to search
(o)
 
No edit summary
Line 11: Line 11:


==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.