iminoglycinuria
A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.
MONDO:0019216
inborn disorder of amino acid transport
is_a
iminoglycinuria
exact
iminoglycinuria, digenic
exact
SPAC3H1.09c