BODY FLUIDS AND EFFECT OF HEREDITARY DISORDERS 207 
The renal aminoacidurias 
The Fancomt syndrome. Under this heading is grouped a number of diseases, affecting 
both adults and children, which are characterized by a marked aminoaciduria, chronic 
acidosis, renal glycosuria, proteinuria and electrolyte disturbances. Evidence has 
been produced®! that there is a morphological abnormality of the proximal kidney 
tubule in some of these cases. This may well be the reason for the reduced tubular 
reabsorption of the amino acids. Fig. 7 shows the amino acid pattern of the urine of a 



LEU 
+ 
iuLEU 
TAU 
THR 
ABA 
HIS 
CLU-NH, 
Aor 
LYS 
Fig. 8. A paper chromatogram of the urine from a patient with Hartnup disease. 
child with cystinosis which is one of the commoner types of the Fanconi group. In 
these patients there is also a widespread deposition of cystine crystals in the body 
tissues**. This aminoaciduria is of a general type and shows a pattern which is markedly 
similar to that of blood plasma (Fig. 1). 
Hartnup disease. This condition was first described in 1956 by BARON, DENT, Harris, 
HART AND JEPSON®’. They reported on a family in which four out of eight children 
were affected and they believed the disease to be hereditary. The discovery of a num- 
References p. 217/219 
