| HYPER BETA-ALANINEMIA | |
| HYPERALANINEMIA | |
|
237400
OMIM = Online Mendelian Inheritance of Men | |
|
309147 | |
| very rare autosomal recessive | |
| Laboratory findings | 3-Aminoisobutyric acid inc (urine) 4-Aminobutyric acid inc (urine) beta-Alanine inc (urine) beta-Alanine inc (plasma) beta-Alanine inc (cerebrospinal fluid) Taurine inc (urine) |
| Symptoms | Amino acid, spinal fluid Amino acids, plasma Amino acids, urine defect of deep tendon reflexes early death failure to thrive hypotonia lethargy, drowsiness, apathy onset, neonatal respiratory distress seizures |