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Your search keyword '"Benign hyperphenylalaninemia"' showing total 3 results
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3 results on '"Benign hyperphenylalaninemia"'

1. Cognitive functioning in mild hyperphenylalaninemia

Author

Alicia de la Parra, María Ignacia García, Susan E. Waisbren, Verónica Cornejo, and Erna Raimann

Subjects
Benign hyperphenylalaninemia, Cognitive development, Phenylketonuria, PKU, IQ, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

Background: Hyperphenylalaninemia is a hereditary metabolic disorder that causes elevated blood phenylalanine (Phe). Hyperphenylalaninemias are classified as Phenylketonuria PKU (Phe > 6 mg/dL) or mild hyperphenylalaninemia (mHPA) (Phe 2–6 mg/dL). This study examines the cognitive functioning of early diagnosed children with mHPA compared with early diagnosed and treated children with PKU. Sample and methods: Psychomotor development (BSID-II) at 12 and 36 months of age, and cognitive performance at 4 and 7 years of age (WPPSI and WISC-R), were assessed in 118 PKU and 97 mHPA patients. Cognitive profile analysis of WISC-R subscales in school age children was performed and results were compared between the two groups. Results: Both groups preformed within the average range. Scores were significantly higher in the mHPA group. The mean Mental Development Index (MDI) at 12 months of age was 98.1 in the mHPA group and 92.3 in the PKU group (p

Published
2015
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2. Cognitive functioning in mild hyperphenylalaninemia

Author

Verónica Cornejo, María Ignacia García, Susan E. Waisbren, Erna Raimann, and Alicia de la Parra

Subjects
Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Endocrinology, Hyperphenylalaninemia, Genetics, medicine, Cognitive development, Phenylketonuria, Phenylketonuria (PKU), Effects of sleep deprivation on cognitive performance, Benign hyperphenylalaninemia, Molecular Biology, lcsh:QH301-705.5, Psychomotor learning, lcsh:R5-920, Wechsler Preschool and Primary Scale of Intelligence, business.industry, Metabolic disorder, nutritional and metabolic diseases, Cognition, medicine.disease, lcsh:Biology (General), IQ, PKU, business, lcsh:Medicine (General), Research Paper
Abstract

Background: Hyperphenylalaninemia is a hereditary metabolic disorder that causes elevated blood phenylalanine (Phe). Hyperphenylalaninemias are classified as Phenylketonuria PKU (Phe > 6 mg/dL) or mild hyperphenylalaninemia (mHPA) (Phe 2–6 mg/dL). This study examines the cognitive functioning of early diagnosed children with mHPA compared with early diagnosed and treated children with PKU. Sample and methods: Psychomotor development (BSID-II) at 12 and 36 months of age, and cognitive performance at 4 and 7 years of age (WPPSI and WISC-R), were assessed in 118 PKU and 97 mHPA patients. Cognitive profile analysis of WISC-R subscales in school age children was performed and results were compared between the two groups. Results: Both groups preformed within the average range. Scores were significantly higher in the mHPA group. The mean Mental Development Index (MDI) at 12 months of age was 98.1 in the mHPA group and 92.3 in the PKU group (p

Published
2015

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