RT Journal
A1 Thier SO, Alpers DH
T1 DIsorders of intestinal transport of amino acids
JF American Journal of Diseases of Children
JO American Journal of Diseases of Children
YR 1969
FD January 1
VO 117
IS 1
SP 13
OP 23
DO 10.1001/archpedi.1969.02100030015003
UL http://dx.doi.org/10.1001/archpedi.1969.02100030015003
AB AMINO acids, the primary structural units of proteins, are transported against electrical and concentration gradients across the epithelial cells of the renal tubule and the intestine and across the plasma membranes of most cells. In recent years it has become evident that specific amino acid transport mechanisms in the intestine may be comparable to those in the renal tubule, and may be under the same genetic control. Inherited diseases which directly or indirectly affect these mechanisms are referred to as disorders of amino acid transport. Such disorders were historically discovered as "renal amino acidurias." ("Renal amino acidurias" are a group of disorders in which the capacity of the renal tubules to reabsorb amino acids is reduced [low threshold]. They must be differentiated from two groups of disorders in which known extrarenal enzyme defects produce amino acidurias but in which there are no transport abnormalities. In the first group an