Increased In:

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
  • Galactosemia
  • Hartnup’s disease
  • Lactose intolerance
  • Lowe’s syndrome
  • Maple syrup urine disease
  • Tyrosinemia type I
  • Tyrosinosis
  • 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
  • Hyperparathyroidism
  • 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)

Decreased In:
N/A