Biomaterial Database

Intellectual development and academic achievement of children treated early for phenylketonuria. 1979

H K Berry, and D J O'Grady, and L J Perlmutter, and M K Bofinger

Twenty early-treated children with classical phenylketonuria (PKU), five early-treated children with variant PKU and seven untreated children with hyperphenylalinemia were compared with non-PKU family members in terms of intellectual development, and 14 school-age PKU children were also compared for academic achievement. For the early-treated children with classical PKU, mean IQ (98) was within the normal range, but nine of these 20 children had IQ scores more than 1SD below those of family members. There was a significant negative correlation between phenylalanine concentrations at one to four years of age and later measured intelligence in these early-treated children, but this was probably a consequence of poor dietary control in the early years. The early-treated children with variant PKU and those with hyperphenylalaninemia had IQ scores consistent with those of unaffected family members, but untreated children with variant PKU had scores significantly lower than their own early-treated siblings. Achievement scores of the early-treated PKU children were consistent with their intellectual ability: they and their non-PKU siblings had similar standard scores for reading and spelling, but arithmetic scores were significantly lower for the PKU children. Early-treated children whose diet had been discontinued had achievement scores in all subjects below those predicted from their IQS.

UI	MeSH Term	Description	Entries
D007360	Intelligence	The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.
D008297	Male		Males
D010649	Phenylalanine	An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE.	Endorphenyl,L-Phenylalanine,Phenylalanine, L-Isomer,L-Isomer Phenylalanine,Phenylalanine, L Isomer
D010661	Phenylketonurias	A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).	Biopterin Deficiency,Dihydropteridine Reductase Deficiency Disease,Hyperphenylalaninemia, Non-Phenylketonuric,Phenylalanine Hydroxylase Deficiency Disease,BH4 Deficiency,DHPR Deficiency,Deficiency Disease, Dihydropteridine Reductase,Deficiency Disease, Phenylalanine Hydroxylase,Deficiency Disease, Phenylalanine Hydroxylase, Severe,Dihydropteridine Reductase Deficiency,Folling Disease,Folling's Disease,HPABH4C,Hyperphenylalaninaemia,Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism,Hyperphenylalaninemia, BH4-Deficient, C,Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency,Non-Phenylketonuric Hyperphenylalaninemia,Oligophrenia Phenylpyruvica,PAH Deficiency,PKU, Atypical,Phenylalanine Hydroxylase Deficiency,Phenylalanine Hydroxylase Deficiency Disease, Severe,Phenylketonuria,Phenylketonuria I,Phenylketonuria II,Phenylketonuria Type 2,Phenylketonuria, Atypical,Phenylketonuria, Classical,QDPR Deficiency,Quinoid Dihydropteridine Reductase Deficiency,Tetrahydrobiopterin Deficiency,Atypical PKU,Atypical Phenylketonuria,Biopterin Deficiencies,Classical Phenylketonuria,Deficiency, BH4,Deficiency, Biopterin,Deficiency, DHPR,Deficiency, Dihydropteridine Reductase,Deficiency, PAH,Deficiency, Phenylalanine Hydroxylase,Deficiency, QDPR,Deficiency, Tetrahydrobiopterin,Disease, Folling,Disease, Folling's,Hyperphenylalaninemia, Non Phenylketonuric,Non Phenylketonuric Hyperphenylalaninemia,Non-Phenylketonuric Hyperphenylalaninemias
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002657	Child Development	The continuous sequential physiological and psychological maturing of an individual from birth up to but not including ADOLESCENCE.	Infant Development,Development, Child,Development, Infant
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000124	Achievement	Success in bringing an effort to the desired end; the degree or level of success attained in some specified area (esp. scholastic) or in general.	Accomplishment,Accomplishments,Achievements