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HISTIDINURIA

HISTIDINURIA
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT; HISTIDINURIA
235830
OMIM = Online Mendelian Inheritance of Men
2158
unknown
E70.8
very rare
autosomal recessive
Laboratory findings    L-Histidine inc (urine)
Symptoms    Amino acids, urine
    hearing defect, deafness
    mental retardation
    myoclonus
    no clinical symptoms (probably)
    onset, childhood
    onset, infancy
    seizures