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HYPER BETA-ALANINEMIA

HYPER BETA-ALANINEMIA
HYPERALANINEMIA
237400
OMIM = Online Mendelian Inheritance of Men
309147
E79.8
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