Familial Tyrosinaemia with Eye and Skin Lesions

Bardelli, A.; Borgogni, P.; Farnetani, M. A.; Fois, Alberto; Frezzotti, R.; Mattei, Roberta; Molinelli, M.; Sargentini, L.

doi:10.1159/000308631

Cited by 26 publications

(17 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The context is maternal (Lenke and Levy 1980) and paternal (Levy et at 1991) hyperphenylalaninaemia. Maternal hypertyrosinaemia was not harmful in the family here; the findings corroborate earlier reports (Bardelli et al 1977;Hunziker 1980) and challenge the hypothesis that maternal hypertyrosinaemia constitutes a danger to the fetus (Garibaldi and Durand 1980;Fois et al 1986). As shown here, paternal hypertyrosinaemia neither affects male fertility nor has a teratogenic effect.…”

Section: Discussionsupporting

confidence: 90%

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: Intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus

Chitayat

Balbul²,

Hani

et al. 1991

J of Inher Metab Disea

View full text Add to dashboard Cite

We describe an Ashkenazi Jewish family in which two adults, offspring of consanguineous parents, have persistent hypertyrosinaemia (770-1110 mumol/L; normal less than 110 mumol/L). The metabolic disorder in this family is apparently due to hepatic cytosolic tyrosine aminotransferase deficiency (hereditary tyrosinaemia, type II; McKusick, 276600), because it is associated with the oculocutaneous manifestations of Richner-Hanhart syndrome. The association of this syndrome with hereditary tyrosinaemia type II is presumed to be constant. It is not in this family. The affected female sib (age 41 years) has hypertyrosinaemia and oculocutaneous signs; the brother (age 39 years) has hypertyrosinemia but no oculocutaneous disease. Both sibs have two children; none has signs of a metabolic fetopathy. Maternal hypertyrosinaemia and maternal hyperphenylalaninaemia evidently constitute different risk factors for the fetus. Paternal hypertyrosinaemia is apparently not a risk to male infertility.

show abstract

Section: Discussionsupporting

confidence: 90%

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: Intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus

Chitayat

Balbul²,

Hani

et al. 1991

J of Inher Metab Disea

View full text Add to dashboard Cite

show abstract

“…Rosa has 4 apparently absolutely normal children, the fifth girl was born several months after we had discovered the tyrosinemia in the mother, the baby was neurologically normal at birth, contrary to babies born to hyperphenylalaninémie mothers; it was also the case of two other children born to tyrosinémie mothers [Bardelli et a i, 1977], Our 2 last patients have no history of ocular lesions. Eye symptoms start very early in life, usually in the first year.…”

Section: Commentmentioning

confidence: 71%

“…Rosa, 1938) andcase 3 (M. José, 1941) are sister and brother, as observed in 4 patients of the 7 cases of Franceschetti with RHS [Franceschetti and Thier, 1961] and in the 2 cases described by Bardelli et al [1977]. In the review of the 7 american cases with RHS and tyrosinemia type II [Goldsmith, 1978], there have been no families with more than one affected child.…”

Section: Commentmentioning

confidence: 94%

See 1 more Smart Citation

Richner-Hanhart Syndrome and Tyrosinemia Type II

Hunziker¹

1980

Dermatology

View full text Add to dashboard Cite

A patient already published as a case of Richner-Hanhart syndrome (RHS) (stabilized corneal lesions and hyperkeratotic lesions on the palms and soles) proved to be associated with tyrosinemia type II. 2 other cases (sister and brother) with only typical dermatologic features of RHS and tyrosinemia type II are described. The treatment with a low phenylalanine and tyrosine diet improves the cutaneous lesions in our 3 cases.

show abstract

“…On the contrary, the patients described by Rimbaud et al [17], Salamon and Lazovic [18] and Salamon [19], whose tyrosinemia is not report ed, may be clinically considered as RichnerHanhart syndrome [20] and might be proven to be tyrosinemia type II. Interest ingly, at least 9 patients out of the 14 collect ed by Franceschetti et al [8] were subse quently found to have high amino acid blood levels [21][22][23][24][25][26]…”

Section: Discussionmentioning

confidence: 99%

Tyrosinemia Type II in Two Cases Previously Reported as Richner-Hanhart Syndrome

Balato¹,

Cusano²,

Lembo³

et al. 1986

Dermatology

View full text Add to dashboard Cite

Two sibs with palmo-plantar keratosis and dendritic corneal opacities, previously described as suffering from Richner-Hanhart syndrome by other authors, about 25 years ago, showed increased plasma and urine tyrosine levels. Their neurological and mental features were within normal limits. A comprehensive review of the literature showed a total of 47 cases of fully documented tyrosinemia type II; 8 more patients also had the clinical features of the disease, but aminoacidemia had never been observed. The importance of early diagnosis is stressed, since a low tyrosine-phenylalanine diet dramatically improves the symptoms and may prevent mental retardation.

show abstract

Familial Tyrosinaemia with Eye and Skin Lesions

Cited by 26 publications

References 11 publications

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: Intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: Intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus

Richner-Hanhart Syndrome and Tyrosinemia Type II

Tyrosinemia Type II in Two Cases Previously Reported as Richner-Hanhart Syndrome

Contact Info

Product

Resources

About