Aminoaciduria
Overview
Aminoaciduria is an abnormal amount of amino acids in the urine. Amino acids are the building blocks for proteins in the body. Small amounts of amino acids are also present in normal urine. Increased total urine amino acids may result from metabolic disorders, chronic liver disease or renal disorders. Aminoacidurias can be divided into primary and secondary aminoacidurias.
Symptoms
- Excess amino acids in urine
Causes
- Methylmalonic aciduria type 2
- Arginosuccinate synthetase deficiency
- Lead
- Propionyl-CoA carboxylase deficiency
- Dibasic aminoaciduria type 2
- Arginase deficiency
- Tyrosinaemia type 2
- Thiamine-responsive megaloblastic anemia syndrome
- Tyrosinaemia type 1
- Hartnup's disease
- Periodic hyperlysinemia
- Hyperprolinaemia type 1
- Saccharopine dehydrogenase deficiency
- Proximal renal tubular acidosis
- GRACILE syndrome
- Non-ketotic hyperglycinemia type 3
- Methionine malabsorption
- Lowe syndrome
- Alkaptonuria
- Glycine decarboxylase deficiency
- Cystathioninuria
- Dibasic aminoaciduria type 1
- Phenylalanine hydroxylase deficiency
- Carbamoylphosphate synthetase deficiency
- Carnosinaemia
- Glutaric acidemia type 2
- North Carolina macular dystrophy
- Nephropathic early-onset cystinosis
- Iminoglycinuria
- Non-ketotic hyperglycinemia L protein deficiency
- Arginosuccinic aciduria
- Maple syrup urine disease
- Hyperprolinaemia type 2
- Aminomethyltransferase deficiency
- Histidinaemia
- Cysteinuria
Treatment
Aminoaciduria Treatment depends on the cause.Treatment of aminoaciduria may include:
- Diet restrictions
- Increase liquids in the diet
- Medications that alkalinize the urine: o Sodium bicarbonate o Sodium citrate
- Vitamin supplements