Adult issues in phenylketonuria.
نویسندگان
چکیده
Phenylketonuria (PKU) is a classical example of an inherited metabolic disease, in which mental retardation can be prevented successfully by using a diet. However, in adult PKU new problems occur, such as vitamin deficiencies, osteoporosis and the maternal PKU syndrome. The aim of this review article is to provide guidelines for the clinician to understand and manage PKU in adults.
منابع مشابه
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.
OBJECTIVE Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls. Cognitive problems in phenylketonuria have often been associated with phenylalanine levels. The present study examined the cognitive profile and mental health in adult phenylketonuria, in relation to phenylalanine levels and tetrahydrobiopterin treatment....
متن کاملComprehensive characterization of cardiac morphology and function in adult patients with phenylketonuria using CMR
Background Phenylketonuria (PKU) is one of the most common inherited metabolic disorders. The molecular pathway of neurological damage is not yet sufficiently understood. To date, there is a lack information about cardiac involvement related to the disease. This study aims to characterize cardiac morphology and function in adult patients with PKU using cardiovascular magnetic resonance (CMR).
متن کاملChallenges to breastfeeding infants with phenylketonuria.
Breastfeeding duration for infants with phenylketonuria (PKU) is less than other full-term infants. However, no study has examined the challenges encountered by mothers' breastfeeding infants with PKU. In 75 mothers of a child with PKU, three categories of breastfeeding challenges were identified: common breastfeeding issues, breastfeeding and PKU, and no challenges. The common breastfeeding is...
متن کاملMeasurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria.
The aim of the study was to determine the level of functional independence in adult patients with previously undiagnosed or untreated phenylketonuria (PKU). The study was conducted among 400 intellectually impaired adult residents of Social Welfare Homes in South-Eastern Poland born prior to the introduction of neonatal PKU screening programs. PKU was screened by filter paper test using tandem ...
متن کاملSerum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study
BACKGROUND It has been previously postulated that high phenylalanine (Phe) might disturb intracerebral dopamine production, which is the main regulator of prolactin secretion in the pituitary gland. Previously, various associations between Phe and hyperprolactinemia were revealed in studies performed in phenylketonuria (PKU) children and adolescents. The aim of the present study was to clarify ...
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ورودعنوان ژورنال:
- The Netherlands journal of medicine
دوره 67 1 شماره
صفحات -
تاریخ انتشار 2009