| HISTIDINURIA | |
| HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT; HISTIDINURIA | |
|
235830
OMIM = Online Mendelian Inheritance of Men | |
|
2158 | |
| 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 |