Mendelian recessive trait

Garrod s pioneering work helped to establish that alkaptonuria and other metabolic diseases were due to the lack of certain enzymes necessary to catalyze the breakdown of amino acids, which then accumulated in the patients. Garrod also proposed that such disorders could be inherited as Mendelian recessive traits. 

Fructosuria is a disease characterized by the excretion of fructose in the urine. There are two types of fructo-surias a benign form with no symptoms and a form associated with fructose intolerance. Both forms are transmitted as mendelian recessive traits. 

Pentosuria symptomless NADP Xylitol dehydrogenase deficiency Mendelian recessive trait Touster, 0. Essential pentosuria and the glu-curonatexylulose pathway. Fed. Proc. 19, 977-983 (1960)... 

A family pedigree is a collection of a family s history for a particular trait. As you work your way through the pedigree of interest, the Mendelian inheritance theories are applied. In tracing a trait, the generations are mapped in a pedigree chart, similar to a family tree but with the alleles present. In a case where both parent have a particular trait and one of two children also express this trait, then the trait is due to a dominant allele. In contrast, if both parents do not express a trait and one of their children do, that trait is due to a recessive allele. 

McKusick s compendium of Mendelian traits in man lists 793 autosomal dominants, 629 autosomal recessives, and 123 X-linked recessives. 

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