Increased amino acid accumulation (total amino acids) occurs when a specific enzyme deficiency prevents its catabolism or when there is impaired clearance by the kidneys:
- Primary causes (inherited):
- Aminoaciduria (specific)
- Cystinosis (may be masked because of decreased glomerular filtration rate, so values may be in normal range)
- Fanconi’s syndrome
- Fructose intolerance
- Hartnup’s disease
- Lactose intolerance
- Lowe’s syndrome
- Maple syrup urine disease
- Tyrosinemia type I
- Wilson’s disease
- Secondary causes (noninherited):
- Acute leukemia
- Chronic renal failure (reduced glomerular filtration rate)
- Chronic renal failure
- Diabetic ketosis
- Epilepsy (transient increase related to disturbed renal function during grand mal seizure)
- Folic acid deficiency
- Liver necrosis and cirrhosis
- Multiple myeloma
- Muscular dystrophy (progressive)
- Osteomalacia (secondary to parathyroid hormone excess)
- Pernicious anemia
- Thalassemia major
- Vitamin deficiency (B, C, and D; vitamin D–deficiency rickets, vitamin D–resistant rickets)
- Viral hepatitis (related to the degree of hepatic involvement)
Amino Acid Screen, Urine has been found in Davis's Lab & Diagnostic Tests
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