Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 - a case report.
case report
inborn errors of metabolism
nitisinone
pregnancy
tyrosinemia type 1
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
23 Feb 2022
23 Feb 2022
Historique:
received:
09
07
2021
accepted:
26
08
2021
pubmed:
11
9
2021
medline:
31
3
2022
entrez:
10
9
2021
Statut:
epublish
Résumé
Tyrosinaemia type 1, an inherited disorder of tyrosine metabolism, is usually treated with a tyrosine-defined diet and since 2000 with nitisinone. So far, data about effects of nitisone during pregnancy and breastfeeding are rare. This is the first report of two pregnancies in a patient with tyrosinaemia type 1 while under treatment with nitisinone. We here present a 20-year-old female patient with tyrisonemia type 1 receiving treatment with nitisinone and a tyrosine-defined diet since she was diagnosed with tyrosinaemia type 1 at the age of 18 months. During two pregnancies blood concentrations of tyrosine, succinylacetone and nitisinone were measured regularly. Neither infant has tyrosinaemia type 1 and both showed an initial increase in concentrations of tyrosine, succinylacetone and nitisinone. All three metabolites dropped within two weeks after birth. Both were exclusively breastfed for about two weeks. Both children show age-appropriate physical and mental development. Nitisinone therapy during pregnancy and the short breastfeeding period did not result in adverse events in our patient or her children. Regular assessments of tyrosine, succinylacetone and nitisinone should be made during pregnancy and the breastfeeding period in both the mother and the infant. For better understanding, in principle, all cases of pregnancy and breastfeeding with tyrosinemia type 1 should be assessed and followed to further evaluate the implications of tyrosinaemia type 1 and its treatment during pregnancy. Additionally, even though experience with breastfeeding is limited, medication with nitisinone is safe and there is no reason to consider breastfeeding unsafe or to not recommend it.
Identifiants
pubmed: 34506697
pii: jpem-2021-0465
doi: 10.1515/jpem-2021-0465
doi:
Substances chimiques
Cyclohexanones
0
Nitrobenzoates
0
nitisinone
K5BN214699
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
259-265Informations de copyright
© 2021 Walter de Gruyter GmbH, Berlin/Boston.
Références
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