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Summary
GABA TRANSAMINASE DEFICIENCY
GAMMA-AMINOBUTYRATE TRANSAMINASE GAMMA-AMINO BUTYRIC ACID (GABA) TRANSAMINASE DEFICIENCY
613163
OMIM = Online Medalian Inheritance of Men
2066
16p13.2
  • no specific treatment
very rare
autosomal recessive
symptoms
Amino acid, spinal fluid
Amino acids, plasma
cerebellar atrophy or hypoplasia
chorea or athetosis
corpus callosum, agenesis/hypoplasia
early death
encephalopathy
epilepsy
feeding difficulties, poor feeding
high pitched cry
hyperreflexia
hypotonia
increased growth velocity
lethargy, drowsiness, malaise or sleep disorder
macrosomia
mental retardation
onset, infancy
onset, neonatal
psychomotor retardation
seizures
laboratory finding
beta-Alanine 23.000.0010.00-Ámol/lplasma
beta-Alanine 0.480.000.06-Ámol/lcerebrospinal fluid
gamma-Aminobutyric acid0.004.800.000.10-Ámol/lcerebrospinal fluid
gamma-Aminobutyric acid0.002.900.002.00-Ámol/lplasma
Homocarnosine 4.008.70increasedcerebrospinal 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
MRI, brain, abnormalities -
EEG abnormalities -
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
Yakubov R,et al.Asymptomatic classical hereditary xanthinuria type 1Harefuah1516330-3312012
Geng J,et al.Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson diseaseWorld J Pediatr002012
Eggermann T,et al.Multi-exon deletion in the XDH gene as a cause of classical xanthinuriaClin Nephrol79178-802013
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994