Disorders of L-Lysine Metabolism

1975 Trijbels etal, 1979) (McKusick 23 940). The precise nature of this severe progressive neurological disorder is unclear and it will not be discussed further in this chapter. 

2-Aminoadipic acid concentrations in the urine of the patients of Wilson et al. (1975) were 1480 /xmol (24 h) and 1500 /utmol (24 h) in his sister, compared to 520 fimol (24 h) in the patient of Przyrembel et al. (1975) on a protein intake of 4.5 g per kg body weight (lysine 390 mg kg ). The latter authors were able to demonstrate a greatly reduced excretion when protein intake and lysine intake were reduced, the 2-aminoadipic acid excretion falling to 155 tmol (24 h) on a protein intake of 2.3 g per kg body weight (lysine 170 mg/kg) and 49 /imol (24 h) on a protein intake of 2.3 g per kg body weight with a zero lysine intake. Controls excreted 21-29 /xmol (24 h) Przyrembel al. (1975) also showed the effects of an oral lysine load test with increased serum concentrations of both lysine and 2-aminoadipic acid. Baseline plasma lysine concentrations in their patient were low normal (0.062-0.194 mmol 1 S normal 0.227 0.091) and 2-aminoadipic acid concentrations were 0.050-0.079 mmol 1 (normal undetectable). 

In summary, 2-ketoadipic aciduria is characterized by an increased plasma and urine 2-aminoadipic acid, and excretion of 2-oxoadipic and 2-hydroxyadipic acids. 1,2-Butenedicarboxylic and glutaric aciduria may also 

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