| HYPERVALINEMIA | |
| VALINEMIA | |
|
277100
OMIM = Online Mendelian Inheritance of Men | |
|
79197 | |
| rare autosomal recessive | |
| Laboratory findings | Valine inc (plasma) Valine inc (urine) |
| Symptoms | behavior, hyperactive, restless Amino acids, plasma Amino acids, urine failure to thrive growth retardation, poor growth lethargy, drowsiness, apathy mental retardation muscle weakness onset, childhood onset, infancy vomiting |