| TYROSINEMIA II | |
| RICHNER-HANHART SYNDROME. OCULOCUTANEOUS TYROSINEMIA, TYROSINE TRANSAMINASE DEFICIENCY | |
|
276600
OMIM = Online Mendelian Inheritance of Men | |
|
28378 | |
| tyrosine aminotransferase, cytosolic, hepatic | |
| 2.6.1.5 | |
| rare (<1:1000000) autosomal recessive mutation in the tyrosine aminotransferase gene (TAT) | |
| Laboratory findings | L-Tyrosine inc (plasma) N-Acetyltyrosine inc (urine) 4-Hydroxyphenylacetic acid inc (urine) 4-Hydroxyphenyllactic acid inc (urine) 4-Hydroxyphenylpyruvic acid inc (urine) 4-Hydroxycyclohexylacetic acid inc (urine) |
| Symptoms | corneal erosion palmoplantar hyperkeratosis hyperlacrimation microcornea hyperkeratosis intellectual disability/intellectual developmental disorder keratitis photophobia or photosensitive defect in light-exposed area skin defects behavior, hyperactive, restless cataract corneal clouding corneal deposits glaucoma growth retardation, poor growth mental retardation microcephaly (<2 SD for age) onset, infancy onset, neonatal seizures |