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خرید پکیج
تعداد ایتم قابل مشاهده باقیمانده : 3 مورد
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Amino acid levels

Amino acid levels
Amino acid High in plasma Low in plasma High in urine
Alanine Disorders of pyruvate metabolism, urea cycle disorders, mitochondrial disorders Untreated maple syrup urine disease Disorders of pyruvate metabolism, urea cycle disorders, mitochondrial disorders
Alloisoleucine Maple syrup urine disease Maple syrup urine disease
Arginine Argininemia Argininosuccinic aciduria, citrullinemia, ornitine transcarbamylase deficiency, carbamylphosphatase deficiency, inadequate diet Argininemia, cystinuria, lysinuric protein intolerance
Argininosuccinate Argininosuccinic aciduria Argininosuccinic aciduria
Aspartate
Citrulline Citrullinemia, citrin deficiency, argininosuccinic aciduria Ornitine transcarbamylase deficiency, carbamylphosphatase deficiency, inadequate diet Citrullinemia, citrin deficiency, argininosuccinic aciduria
Cystine Molybdenum cofactor deficiency/sulfate oxidase deficiency Cystinuria
Glutamate Improper sample handling
Glutamine Urea cycle disorders/hyperammonemia Improper sample handling
Glycine Glycine encephalopathy, organic acidemias Glycine encephalopathy, organic acidemias
Histidine Histidinemia (benign condition) Histidinemia (benign condition)
Homocystine (free) Homocystinuria, disorders of vitamin B12 transport and synthesis Cystathionine beta-synthetase deficiency, disorders of vitamin B12 transport and synthesis
Isoleucine Maple syrup urine disease, fasting Maple syrup urine disease
Leucine Maple syrup urine disease, fasting Maple syrup urine disease
Lysine Citrin deficiency, hyperlysinemia (benign) Cystinuria, lysinuric protein intolerance
Methionine Homocystinuria, citrin deficiency, liver dysfunction Disorders of vitamin B12 transport and synthesis Cystathionine beta-synthetase deficiency, liver dysfunction
Ornithine Ornitine aminotransferase deficiency, hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome Cystinuria, lysinuric protein intolerance, ornithine aminotransferase deficiency
Phenylalanine Phenylketonuria Phenylketonuria
Proline Hyperprolinemia Hyperprolinemia
Serine 3-phosphoglycerate dehydrogenase deficiency
Threonine Citrin deficiency
Tryptophan
Tyrosine Tyrosinemia types I and II, hepatic dysfunction Phenylketonuria Tyrosinemia types I and II, hepatic dysfunction
Valine Maple syrup urine disease, fasting Maple syrup urine disease
Patterns of abnormalities:
  • Argininemia - elevated plasma arginine
  • Argininosuccinic aciduria - elevated plasma citrulline, elevated plasma argininosuccinate, low plasma arginine
  • Carbamyl phosphate synthetase deficiency - low plasma citrulline, ±elevated plasma glutamine (identical pattern to ornithine transcarbamylase deficiency)
  • Citrin deficiency - elevated plasma citrulline, threonine, methionine, lysine, and arginine
  • Citrullinemia - elevated plasma citrulline, low plasma arginine
  • Cystinuria - elevated urine cystine, lysine, arginine, and ornithine
  • Glycine encephalopathy - cerebrospinal fluid (CSF):plasma glycine ratio >0.08
  • HHH syndrome - elevated plasma ornithine
  • Homocystinuria - elevated plasma homocystine* and methionine
  • Hyperprolinemia - elevated plasma proline
  • Lysinuric protein intolerance - elevated urine lysine, arginine, and ornithine
  • Maple syrup urine disease - elevated plasma alloisoleucine, isoleucine, leucine, and valine with perturbation of the normal 1:2:3 ratio of isoleucine:leucine:valine, low plasma alanine
  • Ornithine aminotransferase deficiency - elevated plasma ornithine
  • Ornithine transcarbamylase deficiency - low plasma citrulline, ± elevated plasma glutamine (identical pattern to carbamyl phosphate synthetase deficiency)
  • Phenylketonuria - elevated plasma phenylalanine ± low plasma tyrosine
  • Tyrosinemia types I and II - elevated plasma tyrosine
  • Vitamin B12 (cobalamin) processing disorders - elevated plasma homocystine* with low or normal plasma methionine
* Routine plasma amino acid analysis measures free plasma homocystine, not total plasma homocystine. Total plasma homocystine is the preferred test for the diagnosis and management of homocystinuria and disorders of vitamin B12 (cobalamin) transport and synthesis.
Courtesy of V Reid Sutton, MD.
Graphic 73440 Version 7.0