Transcript Amino acid Profiling

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, MASA
Amino acid Profiling
Common Aminoacidopathies and
Associated Amino Acid Elevations
What is amino acid profiling?
Amino acids are the basic structural units of the proteins
and could be easily detected in any biological fluid. Profiling
of amino acids in plasma and urine has been used to
elucidate a rapidly growing number of aminoacidopathies.
Primary Aminoacidopathies
Arginine, glutamine
Citrullinemia
Citrulline, glutamine
Cystinuria
Clinical Background
Homocystinuria
Primary aminoacidopathies are typically autosomal recessive
or X-linked inherited disorders resulting from a deficient
enzyme or transport protein.
Hyperaminoacidemias and hyperaminoacidurias typically
indicate genetically inherited metabolic enzyme impairments
such as phenylketonuria, tyrosinemia, cystinuria or can
detect renal transport disorders. Inherited metabolic
disorders generally result in accumulation or the deficiency
of one or more amino acids in biological fluids, and the
abnormality is easily detected in either specimen type.
Symptoms range from relatively benign to severe including
growth and mental retardation, developmental delay,
learning disabilities, seizures, lethargy, vomiting, metabolic
acidosis or alkalosis or osteoporosis.
Quantification of amino acids can also be performed on
spinal fluid for confirmation of a diagnosis and to assess the
degree of brain involvement in metabolic defects of biogenic
amine neurotransmitters.
Abnormal amino acid patterns can provide key information
about physiological and pathological metabolic status in
patients. Early diagnosis of metabolic disorders and amino
acids impairment should provide early treatment and dietary
management. Depending on the natural history of the
disorder, early diagnosis would lead to minimization or
prevention of clinical symptoms.
Elevated Amino Acids
Arginase deficiency
Maple syrup urine disease
(MSUD)
Phenylketonuria (PKU)
Tyrosinemia
Cystine, ornithine, lysine,
arginine (urine only)
Homocystine
Valine, isoleucine,
leucine, alloisoleucine
Phenylalanine
Tyrosine
Secondary Aminoacidopathies
Hyperammonemia
Glutamine
Lactic acidosis
Alanine
Organic acidurias, selected
Glycine
Transient tyrosinemia of the
newborn
Tyrosine
Method
Amino acid analysis in biological fluids is a routine
analysis performed in RCGEB “Georgi D. Efremov”, for
almost 20 years. Quantitative amino acid analysis is
performed using ion-exchange chromatography with postcolumn ninhydrin derivatization method on Biochrom 30
amino acid analyzer. This method remains a gold standard
for detection of inborn errors of amino acid catabolism and
transport.
Who should be tested:
Material for testing
Children suspected for:
 inborn metabolic errors,
 renal diseases,
 children with neurological impairment,
(autism, developmental delay or mental retardation)

Whole blood specimens collected in sterile tubes with
EDTA as anticoagulant;
 Urine specimen (Creatinine concentration should be
supplied)
 Cerebrospinal fluid
Analysis performed at RCGEB “Georgi D. Efremov”
Amino acid analysis (Biochrom 30)
Price (МКД)
6.000
Literature:
1.
2.
3.
Part 8. Amino Acids. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW, Vogelstein B, eds. The Metabolic and Molecular
Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill, Inc; 2001;1665-2105.
Part IV. Disorders of amino acid metabolism and transport. Fernandes J, Saudubray J-M, Van den Berghe G, eds. Inborn Metabolic Diseases
Diagnosis and Treatment. 3rd ed. New York, NY: Springer; 2000;169-273.
Sukarova Stefanovska E., Popovska-Jankovic K., Gucev Z., Tasic V., Jotovska O., Plaseska-Karanfilska D. Quantitative amino acid analysis in
rare diseases – our experience. Rare Diseases in South-Eastern Europe; Skopje, Macedonia, November 15-17, 2012
RCGEB, 2013