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Summary
GABA TRANSAMINASE DEFICIENCY
GAMMA-AMINOBUTYRATE TRANSAMINASE GAMMA-AMINO BUTYRIC ACID (GABA) TRANSAMINASE DEFICIENCY
137150
OMIM = Online Medalian Inheritance of Men
2066
16p13.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
very rare autosomal recessive
symptoms
Amino acid, spinal fluid
Amino acids, plasma
high pitched cry
hyperreflexia
hypotonia
increased growth velocity
lethargy, drowsiness, malaise or sleep disorder
macrosomia
mental retardation
seizures
laboratory finding
beta-Alanine 23.000.0010.00-Ámol/lplasma
beta-Alanine 0.480.000.06-Ámol/lspinal fluid
gamma-Aminobutyric acid0.004.800.000.10-Ámol/lspinal fluid
gamma-Aminobutyric acid0.002.900.002.00-Ámol/lplasma
Homocarnosine 4.008.70increasedspinal fluid
GABA transaminase decreased activityliver
beta-Alanine60.00480.00 nmol/lurineno data
gamma-Aminobutyric acid0.005.00 +Ôé¼mol/lurineno data
Citrulline27.00181.00 +Ôé¼mol/lurineno data
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Jaeken JJacobs CDisorders of neurotransmittersin Fernandes J, Saudubray JM, Tada K (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00305-3131996
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994