Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia

Fois, Alberto; Borgogni, P.; Cioni, Maddalena; Molinelli, M.; Frezzotti, R.; Bardelli, A.; Lasorella, G.; Barberi, Laura; Durand, P.; Rocco, Maja Di; Romano, C.; Parini, Rossella; Corbetta, Carlo; Giovannini, Marcello; Riva, Enrica; Balato, Nicola; Sartorio, R.; Mollica, F; Zammarchi, Enrico; Battini, M. L.

doi:10.1007/bf01799723

Cited by 29 publications

(17 citation statements)

References 3 publications

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“…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: 87%

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

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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.

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Section: Discussionsupporting

confidence: 87%

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

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“…Fois et al [9] noted that both children born to a mother with substantially elevated tyrosine levels (about 1700 btmol/1) were mentally retarded and microcephalic. One of these children had convulsions.…”

Section: Discussionmentioning

confidence: 98%

Maternal tyrosinaemia II: Management and successful outcome

1992

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A 25-year-old woman with tyrosinaemia type II was treated from the 5th week of pregnancy with a protein-restricted diet supplemented with a tyrosine/phenylalanine-free amino acid mixture. Tyrosine concentrations were maintained in the range 100-200 mumol/l by restricting natural protein intake to 0.16 g/kg per 24 h in early pregnancy, with increases up to 0.38 g/kg per 24 h in the last trimester. This treatment maintained plasma phenylalanine concentrations in the range 20-40 mumol/l. Maternal weight gain and fetal growth were normal, and the mother remained asymptomatic throughout the pregnancy. A normal infant was born at term with length, weight and head circumference between the 25-50th per centiles.

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“…[18][19][20][21] With appropriate treatment, maternal tyrosine levels can be lowered, but there is little consensus as to the target range of tyrosine levels required in pregnancy to protect the fetus. Although the number of reported pregnancies is small, there is no definitive evidence that the elevated organic acids found in disorders such as methylmalonic acidemia, propionic acidemia (#606054) or glutaric aciduria type I (#231670) are teratogenic, and successful pregnancies have been reported.…”

Section: Teratogenicitymentioning

confidence: 99%

Pregnancy in women with inherited metabolic disease

Murphy

2015

Obstet Med

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An increasing number of women with rare inherited disorders of metabolism are becoming pregnant. Whilst, in general, outcomes for women and their children are good, there are issues that need to be considered. Due to the rarity of many conditions, there is limited specific guidance available on best management. Prepregnancy counselling with information on inheritance, options for reproduction, teratogenicity risk, potential impact on maternal health and long-term health of children should be offered. With appropriate specialist management, the teratogenic risk of conditions such as maternal phenylketonuria (PKU) can be eliminated, and the risk of metabolic decompensation in other disorders of intoxication or energy metabolism significantly reduced. Newer therapies, such as enzyme replacement therapy, appear to be safe in pregnancy, but specific advice should be sought. Multidisciplinary management, and close liaison between obstetricians and other specialists is required for women in whom there is cardiac, renal, respiratory, joint or other organ involvement.

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Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia

Cited by 29 publications

References 3 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

Maternal tyrosinaemia II: Management and successful outcome

Pregnancy in women with inherited metabolic disease

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