Biomaterial Database

[Richner-Hanhart's syndrome or oculo-cutaneous tyrosinosis (about one case) (author's transl)]. 1979

M Larrègue, and P de Giacomoni, and J M Bressieux, and M Odièvre

Richner-Hanhart's syndrome correspond to an hypertyrosinemia due to a deficiency of a soluble tyrosine amino-transferase. This recently described tyrosinosis has been called oculo-cutaneous tyrosinosis. This disease transmitted on a recessive way in amenable to a treatment by a low tyrosine diet. In an infant, 18 months old, presenting a bilateral dendritic keratitis, a punctiform keratosis of the extremities, a patchy leucokeratosis of the tongue and a mental ketardation, the hypertyrosinemia reached 52 mg per 100 ml and the urine demonstrated the presence of phenyl-atonic acids. There was no hepato-renal involvement. The deferency of soluble amino-transferase was studied on the hepatocytes and confirmed. The low tyrosine diet made the clinical and biological signs disappear. The improvement was noticeable from the first week on and continued during the 16 months of the follow-up. There was no ill effect of the special diet on the weight and height growth. The oculo-cutaneous tyrosinosis is similar to the experimental form obtained by Schweizer on the rat. The occurrence of intracellular tyrosine crystals probably damages lysosine membrane and the release lysomie proteases induce the cellular lesions.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007635	Keratitis, Dendritic	A form of herpetic keratitis characterized by the formation of small vesicles which break down and coalesce to form recurring dendritic ulcers, characteristically irregular, linear, branching, and ending in knoblike extremities. (Dictionary of Visual Science, 3d ed)	Furrow Keratitis,Keratitis, Furrow,Dendritic Keratitides,Dendritic Keratitis,Furrow Keratitides,Keratitides, Dendritic,Keratitides, Furrow
D007642	Keratosis	Any horny growth such as a wart or callus.	Keratoderma Blennorrhagicum,Keratoma,Keratosis Blennorrhagica,Blennorrhagica, Keratosis,Blennorrhagicas, Keratosis,Blennorrhagicum, Keratoderma,Blennorrhagicums, Keratoderma,Keratoderma Blennorrhagicums,Keratomas,Keratoses,Keratosis Blennorrhagicas
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000637	Transaminases	A subclass of enzymes of the transferase class that catalyze the transfer of an amino group from a donor (generally an amino acid) to an acceptor (generally a 2-keto acid). Most of these enzymes are pyridoxyl phosphate proteins. (Dorland, 28th ed) EC 2.6.1.	Aminotransferase,Aminotransferases,Transaminase
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D014060	Tongue Diseases	Diseases involving the TONGUE.	Microglossia,Disease, Tongue,Diseases, Tongue,Microglossias,Tongue Disease