| GABA TRANSAMINASE DEFICIENCY | |
| GAMMA-AMINOBUTYRATE TRANSAMINASE; GAMMA-AMINO BUTYRIC ACID (GABA) TRANSAMINASE DEFICIENCY | |
|
613163
OMIM = Online Mendelian Inheritance of Men | |
|
2066 | |
| 4-aminobutyrate aminotransferase, mitochondrial | |
| 2.6.1.19 | |
| very rare autosomal recessive mutation in the ABAT gene | |
| Laboratory findings | 4-Aminobutyric acid inc (cerebrospinal fluid) 4-Aminobutyric acid inc (urine) 4-Aminobutyric acid inc (plasma) beta-Alanine inc (plasma) beta-Alanine inc (urine) beta-Alanine inc (cerebrospinal fluid) Citrulline inc (urine) GABA transaminase dec (liver) Homocarnosine inc (cerebrospinal fluid) |
| Symptoms | Amino acid, spinal fluid Amino acids, plasma cerebellar atrophy or hypoplasia chorea or athetosis corpus callosum, agenesis/hypoplasia early death EEG abnormalities [-] encephalopathy epilepsy feeding difficulties, poor feeding high pitched cry hyperreflexia hypotonia increased growth velocity lethargy, drowsiness, apathy macrosomia mental retardation MRI, brain, abnormalities [-] onset, infancy onset, neonatal psychomotor retardation screaming or crying, abnormal seizures white matter changes, abnormalities |