Synonym(s): - Keratosis palmoplantaris - corneal dystrophy - Oculocutaneous tyrosinemia - Richner-Hanhart syndrome - Tyrosinemia due to TAT deficiency - Tyrosinemia due to tyrosine aminotransferase deficiency - Tyrosinemia type II
Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare skin disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
TAT	P17735	613018

- Autosomal recessive inheritance
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Corneal clouding / opacity / vascularisation
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Palmoplantar hyperkeratosis / keratoderma

- Aminoacid metabolism anomalies / aminoaciduria
- Hyperhidrosis / increased sweating
- Nystagmus
- Photophobia
- Psychic / behavioural troubles
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

- Ataxia / incoordination / trouble of the equilibrium
- Flat cheek bones / malar hypoplasia
- Microcephaly
- Nails anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tremor
- Visual loss / blindness / amblyopia