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THE LOWE SYNDROME
Author(s) -
HAMBRÆUS LEIF,
PALLISGAARD GUNNAR,
KILDEBERG POUL
Publication year - 1970
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1970.tb17697.x
Subject(s) - aminoaciduria , medicine , urine , metabolic acidosis , bicarbonate , renal tubular acidosis , cerebrospinal fluid , amino acid , endocrinology , acidosis , metabolism , physiology , biochemistry , chemistry
SUMMARY Ion exchange chromatographic studies of the distribution of a number of amino acids in the body fluids of a two‐year‐old boy with the oculo‐cerebro‐renal syndrome are reported. Amino acid concentrations in serum and in cerebrospinal fluid were normal, whereas studies of the urine disclosed a highly selective (renal) aminoaciduria, rather similar to that occurring in healthy premature infants. Complementary observations on the acid‐base metabolism served to establish the presence of renal tubular acidosis, probably due to a low tubular bicarbonate threshold. The implications of these findings are briefly discussed.