New challenges in management of phenylketonuria in pregnancy: a case report.
J Med Case Rep
; 17(1): 465, 2023 Nov 09.
Article
in En
| MEDLINE
| ID: mdl-37941064
ABSTRACT
BACKGROUND:
Phenylketonuria (PKU) is an autosomal recessive disease that belongs to a group of disorders resulting from inborn errors of protein metabolism. It was the first disease included in neonatal screening. Neonatal screening has allowed an early diagnosis and treatment of the disease. As a result, an increasing number of women diagnosed with phenylketonuria have reached the reproductive phase of life in good health, and management of pregnancy in women with PKU is becoming more frequent. CASE PRESENTATION In this study, we report the case of a 28-year-old Caucasian patient being followed up for phenylketonuria at Ramón y Cajal Hospital's Metabolic Diseases Unit. We describe the patient's gestation, impacted by her and her partner's diagnosis of PKU, classic and mild phenotypes, respectively, resulting in the fetus affectation.CONCLUSIONS:
The description of PKU management-diagnosis, follow-up, and treatment-for both that of patient and that of the gestation with fetus affectation covers a wide sample scenario that shows the effectiveness of pregnancy planning and monitoring of females with PKU and questions the need to carry out a genetic study of gene PKU in the study of fertility.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenylketonurias
Limits:
Adult
/
Female
/
Humans
/
Newborn
/
Pregnancy
Language:
En
Journal:
J Med Case Rep
Year:
2023
Document type:
Article
Affiliation country:
España