Generalized aminoaciduria

Renal calcinosis can develop as a result of hypercalciuria and is a major concern in the treatment of infantile spasms with corticotropin. In 16 infants, corticotropin, often associated with anticonvulsants, results in increased urinary excretion of calcium and phosphate, with increased parathormone serum concentrations and in some cases generalized aminoaciduria (26). This makes it imperative that the dose of corticotropin and the duration of treatment be kept to the minimum required to ensure efficacy. In one case in which calcified stones were removed surgically, recurrence was apparently prevented, despite the presence of a Cushingoid state, by long-term chlorothiazide (27). 

Based on the presence of at least three of the following findings generalized aminoaciduria, glucosuria, increased Fepo4j decreased blood bicarbonate concentration. 

Busby syndrome Generalized aminoaciduria Retarded growth and pulmonary disease Chromatography (R14)... 

Vitamin D deficiency Generalized aminoaciduria Occurs without evidence of hypocalcemia, hypophosphatemia, or increased alkaline phosphatase... 

Following renal trans- Generalized aminoaciduria Aids in assessing tubular... 

Muscular dystrophy Generalized aminoaciduria, decreased urinary hy-droxyproline excretion No correlation with creatinuria... 

Heavy metal poisoning (lead, mercury, cadmium, uranium, thallium) Generalized aminoaciduria ... 

Since the term Fanconi syndrome is difficult to define precisely (MS) and because generalized aminoaciduria should be thought of as a sign of renal injury, not as a diagnosis in and of itself (R9), it is hoped that a more quantitative approach to the analysis of acquired and inherited aminoacidopathies will serve to eliminate this term from the medical literature. 

Tl. Tada, K., Ito, H., Wada, Y., and Arakawa, T., Congenital tryptophanuria with dwarfism ( H -disease-like clinical features without indicanuria and generalized aminoaciduria) —a probably new inborn error of tryptophan metabolism. Tohoku J. Exp. Med. 80, 118-134 (1963). 

Cystine Cystinuria Hy pera rgi n i nem la Generalized aminoaciduria Fanconi syndrome... 

It is of importance to have analytical data on the population at different ages. In the north of Granada province, for example, the incidence of rickets in about 40% of the children (3 months-1 year) was discovered before any clinical symptoms appeared, by means of the simple chromatographic method used for the screening of inborn errors. Generalized aminoaciduria was completely prevented with vitamin D and a less restricted and uniform diet. 

A generalized aminoaciduria that results from proximal renal tubular damage. Failure to reabsorb phosphate and glucose also occurs. The syndrome can be caused by endogenous poisons (e.g. copper in Wilson s disease) or exogenous poisons (e.g. cadmium) damaging the renal tubule. 

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