Qualitative Study of Aminoaciduria in Muscular Dystrophy and Myotonia Dystrophia.

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Abstract
Amino acid excretion of 53 male and female patients with muscular dystrophy and myotonia dystrophica was studied quantitatively and by means of filter paper chromatography. A group of normal siblings and parents of muscular dystrophy patients was also studied. There appears to be a qualitative increase in excretion of amino acids in muscular dystrophy patients. A similar increase in number of urinary amino acids was seen in 10 patients with myotonia dystrophica. A group of uninvolved female siblings and female parents exhibited marked increases in number of amino acids excreted. The aminoaciduria was as extensive as that seen in female muscular dystrophica patients. Amino acid excretion of a group of clinically uninvolved male siblings was moderately increased, whereas male parents manifested no aminoaciduria. The considerably increased numbers of amino acids seen in the urine of normal siblings and maternal parents suggests the possibility of an inherited abnormality of amino acid metabolism.

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