Citrullinemia: Report of Three Bedouin Sibs and Review

Abstract

A Bedouin family from Kuwait, with a ‘mosaic’ inbred population, is reported. The family includes 3 citrullinemic sibs and a discordant identical twin pair. Both interfamilial and intrafamilial phenotype variabilities are briefly discussed. The clinical manifestation of the disease in this family is described and the molecular and enzymatic bases of citrullinemia are briefly discussed.