Phenylketonuria: a review.

Design and Development of a Minimum Data Set for Phenylketonuria Disease

Introduction: Phenylketonuria is one of the most common autosomal recessive metabolic diseases, characterized by a wide range of neuropsychological and neurocognitive disorders. Without proper care, control, and management, this disease can lead to severe mental retardation and neurobehavioral disorders. Therefore, the objective of this study was to design and develop a Minimum Data Set (MDS) f...

Comparative Effectiveness Review 56: Adjuvant Treatment for Phenylketonuria (PKU)

Design and Development of a Minimum Data Set for Phenylketonuria Disease

Introduction: Phenylketonuria is one of the most common autosomal recessive metabolic diseases, characterized by a wide range of neuropsychological and neurocognitive disorders. Without proper care, control, and management, this disease can lead to severe mental retardation and neurobehavioral disorders. Therefore, the objective of this study was to design and develop a Minimum Data Set (MDS) f...

Adult issues in phenylketonuria.

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.

Historical background for the maternal PKU syndrome.

OBJECTIVE To provide information on the history of maternal phenylketonuria. METHODS A review of the literature and personal observations were conducted. RESULTS Compilation of sequential information about the development of our understanding of maternal PKU was produced. CONCLUSIONS The history of maternal PKU reflects continuous additions to our understanding of this teratogenic syndrome.