Proximal renal tubular acidosis in a child with type 1 glycogen storage disease.
A 6 1/2-year-old Japanese girl with type 1 glycogen storage disease developed a profound metabolic acidosis refractory to bicarbonate renal tubular acidosis and hyperphosphaturia. There was no evidence of distal tubular dysfunction.
Matsuo
N
N
Tsuchiya
Y
Y
Cho
H
H
Nagai
T
T
Tsuji
A
A
D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000378:metabolism; D001639:Bicarbonates / Q000378:metabolism; D002648:Child; D005260:Female; D006008:Glycogen Storage Disease / Q000150:complications* / Q000378:metabolism; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007684:Kidney Tubules / Q000378:metabolism; D010710:Phosphates / Q000652:urine
D001639:Bicarbonates; D010710:Phosphates