Deals with symptoms and treatment of PKU (phenylketonuria) and other nutrition-linked diseases which impair physical and mental development. (LR)

Reviews a fictitious case study used as a values-clarifying teaching strategy for students of human genetics and bioethics. (SL)

Research was reviewed on the current status of phenylketonuria, an hereditary amino acid metabolic disorder that can cause severe mental retardation, physical complications, and emotional difficulties if not detected and treated early in childhood. A majority of the research cited was published in the 1960's. Topics covered were: discovery of…

Newborn screening is considered a highly successful public health program that has resulted in the reduction of mortality, mental retardation, and other serious disabilities in thousands of children since the introduction of screening for phenylketonuria (PKU) in the 1960s. Programs are based in state public health departments such that each state…

The booklet covers the identification, diagnosis, and clinical treatment of newborns with Phenylketonuria (PKU), an inborn error of metabolism, which, if untreated, can lead to mental retardation. An initial section considers biochemical and genetic factors of PKU including a diagram of aromatic amino acid hydroxylation systems. Screening…

The report focuses on the diet management of infant and preschool children with phenylketonuria (PKU), a congenital deficiency resulting in brain damage. The effective methods for rapidly lowering serum phenylalanine levels following diagnosis are discussed, a method for prescribing and calculating the phenylalanine-restricted diet is described,…

Twenty parents of children 12 years and older with PKU (phenylketonuria, a metabolic disorder which if untreated can result in mental retardation) were surveyed to determine their level of knowledge and their needs. (CL)

Comprehensively reviews known examples of genetically influenced learning disabilities and speech and language disorders, including familial dyslexia, stuttering, and other speech and language disorders, as well as sex-chromosome anomalies, treated PKU, and minor auto-somal anomalies. (Author/RH)

Describes several laboratory experiments that are adaptations of clinical tests for certain genetic diseases in babies. Information and procedures are provided for tests for phenylketonuria (PKU), galactosemia, tyrosinemia, cystinuria, and mucopolysaccharidosis. Discusses the effects of each disease on the infants' development. (TW)

Parental understanding of PKU, investigated through a questionnaire, was evaluated as to completeness and with respect to distortion. Education of parents was found to be unrelated to their understanding or tendency to distort. Effectiveness of the pediatrician's communication with parents is discussed. (Author/KW)

Classical phenylketonuria (PKU) is caused by a lack activity in the enzyme phenylalanine hydroxylase, leading to elevated concentrations of phenylalanine in the blood. A simple demonstration and three advanced demonstrations of a spot test for phenylpyruvic acid and its relationship to phenylketonuria are given.

Seven rhesus monkeys reared on diets high in phenylalanine to induce phenylketonuria (PKU--a metabolic disorder associated with mental retardation if untreated) were compared with normal, pair-fed, and younger controls; frontal brain-lesioned monkeys; and those raised on high-tryptophan diets in three object discrimination tasks. (Author)

Discontinuation at ages five to six of dietary restriction in 14 children with classic phenylketonuria (PKU--a metabolic disorder which, if untreated, is associated with mental retardation) resulted in deterioration in intellectual function for some of the Ss. Deficits included visual motor integration and cognitive problem solving. (CL)

The paper reviews mental retardation research activities of the National Institute of Child Health and Human Development (NICHHD) and the National Institute of Neurological and Communicative Disorders and Stroke (NINCDS). Research activities are cited to illustrate the scope of NICHHD's efforts in a variety of biomedial areas. Activities are…