tyrosinemia type 2 (Richner-Hanhart syndrome)

Etiology

tyrosine aminotransferase deficiency

Pathology

oculo-cutaneous syndrome

Genetics

• autosomal recessive
• associated with defects tyrosine aminotransferase

Clinical manifestations

• corneal ulcers
• keratosis of the digits, palms & soles
• mental retardation

Laboratory

• elevated blood tyrosine
• enhanced urine tyrosine & tyrosine metabolites

More general terms

• tyrosinemia

Database

• OMIM: https://mirror.omim.org/entry/276600