AMINOACIDURIAS

Increased excretion of amino acids than normal.

Types: Aminoacidurias can be divided into two groups:

• Overflow aminoaciduria: There is some metabolic defect, as a result there occurs

an increase in plasma level of one or more amino acids which exceeds the

 capacity of normal renal tubules to reabsorb them. 


• Renal aminoaciduria: In this the plasma concentration of amino acids is normal

but because of defects in renal tubular reabsorption of amino acids, an
increase amount of one, several or all amino acids escape in 
 urine. 
 (a)
“Overflow” Aminoacidurias 
 The generalised aminoaciduria found: 


• In severe liver diseases like acute yellow atrophy and 
 sometime in cirrhosis
liver, leucine and tyrosine are excreted in urine. Tyrosine crystallises in
sheaves or tufts of fine needles; leucine in spherical shaped crystals,
yellowish in colour and with radial and circular striation. Both are
insoluble in acetone and ether; but soluble in acids and alkalies. 


• Similarly aminoacidurias occur in wasting diseases. 


• Metabolic defects affecting a single amino acid or a small group include

inherited disorders like phenyl ketonuria, maple-syrup disease,
histidinaemia, and 
 histidinuria, etc. 
 (b) Renal Aminoacidurias 
 The
defect may be: 


• Specific to one reabsorption mechanism as in cystinuria, in which there is

failure to reabsorb cyst, lys, arg and ornithine (a common transport defect) and in
Hartnup disease, in which there is failure of reabsorption of all monoamino-
monocarboxylic acids.

• Nonspecific: Generalised aminoaciduria seen:

• In Fanconi syndrome: In which there is also failure to reabsorb glucose,

phosphates, ammonia and 
 other organic acids, e.g. LA 

• In Wilson’s disease: In which in addition to 
 aminoaciduria (Ala, Asp,
Glutamic acid) there is associated glycosuria, uric acid and phosphate
excretion. 


• An increase number of amino acids are excreted by patients suffering from

muscular dystrophies and by their mothers and siblings. Among these are
Methionine or valine, Isoleucine or leucine, methionine sulfoxide or
sarcosine methyl histidine. 


• A generalised hyperaminoaciduria commonly occurs in lead intoxication and in

persons exposed to other heavy metals like Hg, Cd and Uranium.
Aminoaciduria in these cases appear to be due to impaired tubular
reabsorption. 


• More than 1.0 gm of peptides is excreted daily by the average normal human
adult, which accounts for about 1/2 the urinary amino N2 and about 2 per
cent of total N. 


• Large quantities of -amino isobutyric acid (BAIB) are excreted in the urine of a
small proportion (about 5% of otherwise normal people). It has also been
found in various pathologic states, sometimes with other amino acids. It is
apparently due to disturbance in the metabolism of thymine and
dihydrothymine, which are precursors of this amino acid.