Plasma Amino Acids in Term Neonates and Infants with Phenylketonuria before and after Institution of the Diet

Gerdes, Anne–Marie; Nielsen, Jan Kresten; Hc, Lou; Güttler, Flemming

doi:10.1111/j.1651-2227.1990.tb11332.x

Cited by 5 publications

(1 citation statement)

References 11 publications

(6 reference statements)

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“…Alternatively, increased signal intensity may suggest defective myelin synthesis, as seen for instance in Pelizeus-Merzbacher disease. Decreased serum concentrations of essential amino acids is a well-known feature of hyperphenytalaninaemia (Gerdes et al t991), and the transport across the blood-brain barrier is impaired, at least for other aromatic amino acids such as tryptophan and tyrosine that compete with phenylalanine for the same carrier (Gerdes et al 1991). The present study is the first report on proton spectroscopy in hyperphenylalaninaemia.…”

Section: Discussionmentioning

confidence: 52%

An occipito‐temporal syndrome in adolescents with optimally controlled hyperphenylalaninaemia

Lou

Toft

Andresen

et al. 1991

J of Inher Metab Disea

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The study included 16 adolescents with optimally controlled hyperphenylalaninaemia (McKusick 26160), of whom six did not require treatment according to conventional criteria. All except the two patients with lowest median serum phenylalanine level throughout childhood (most values at 200-300 mumol/L) had white matter abnormalities detectable with magnetic resonance imaging. The lesions were particularly prominent in the watershed regions between the posterior and middle cerebral arteries. In most patients with moderate or severe hyperphenylalaninaemia frontal white matter lesions were present as well. Normal proton magnetic resonance spectra indicated that the lesions were stable. Occipital EEG abnormalities were frequent, and deficient performance on a pattern-recognition test was a characteristic neuropsychological finding. Serum phenylalanine levels at about 300 mumol/L or below throughout childhood and early adolescence may be required to avoid lesions. The present study demonstrates the limitations of even an optimally controlled dietary regimen in hyperphenylalaninaemia.

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Section: Discussionmentioning

confidence: 52%

An occipito‐temporal syndrome in adolescents with optimally controlled hyperphenylalaninaemia

Lou

Toft

Andresen

et al. 1991

J of Inher Metab Disea

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Protein Status of Infants with Phenylketonuria Undergoing Nutrition Management

Acosta

Yannicelli

Marriage

et al. 1999

Journal of the American College of Nutrition

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Plasma Amino Acids in Phenylketonuric Children Treated Either with Phenylalanine‐free Amino Acids or a Protein Hydrolysate

et al. 1990

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The plasma amino acid concentrations were measured in 10 children with phenylketonuria (PKU) on the phenylalanine-free amino acid mixture Phenyldon and 9 PKU children on the phenylalanine-free protein hydrolysate Albumaid. The blood samples were taken fasting and two hours after the meal. The individual amino acid concentrations, the glycine/valine ratios, and the total amino acid concentrations were mutually compared and also compared to reference intervals. No differences of the concentration of phenylalanine on the two diet formulas were observed. Children on Phenyldon showed fasting and postprandial isoleucine higher than the reference intervals. Furthermore, a postprandial increase of several amino acids was observed on both diet formulas. This response was statistically significant in children on Phenyldon.

show abstract

Plasma Amino Acids in Term Neonates and Infants with Phenylketonuria before and after Institution of the Diet

Cited by 5 publications

References 11 publications

An occipito‐temporal syndrome in adolescents with optimally controlled hyperphenylalaninaemia

An occipito‐temporal syndrome in adolescents with optimally controlled hyperphenylalaninaemia

Protein Status of Infants with Phenylketonuria Undergoing Nutrition Management

Plasma Amino Acids in Phenylketonuric Children Treated Either with Phenylalanine‐free Amino Acids or a Protein Hydrolysate

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