Familial hyperglycinuria: new defect in renal tubular transport of glycine and imino acids
ML Greene, PS Lietman, LE Rosenberg… - The American journal of …, 1973 - Elsevier
Hyperglycinuria was studied in a father and his two sons. Plasma glycine concentrations
were normal in all three, and although the father had a history of renal colic, his sons were
healthy and asymptomatic. Urinary glycine excretion after oral or intravenous loading was
increased in both sons. Intravenous proline infusion in the younger son (Case 2) showed a
normal maximal transport rate (T m) for proline, but there was marked splay in the renal
tubular titration curve for proline reabsorption, consistent with a “K m” mutation affecting …
were normal in all three, and although the father had a history of renal colic, his sons were
healthy and asymptomatic. Urinary glycine excretion after oral or intravenous loading was
increased in both sons. Intravenous proline infusion in the younger son (Case 2) showed a
normal maximal transport rate (T m) for proline, but there was marked splay in the renal
tubular titration curve for proline reabsorption, consistent with a “K m” mutation affecting …
