Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2001-04

AUTHORS

Josef Weglage, Michael Pietsch, Reinhold Feldmann, Hans-Georg Koch, Johannes Zschocke, Georg Hoffmann, Anja Muntau-Heger, Jonas Denecke, Per Guldberg, Flemming Güttler, Harald Möller, Udo Wendel, Kurt Ullrich, Erik Harms

ABSTRACT

There is international consensus that patients with phenylalanine (Phe) levels <360 μM on a free diet do not need Phe-lowering dietary treatment whereas patients with levels >600 μM do. Clinical outcome of patients showing Phe levels between 360 and 600 μM in serum on a free nutrition has so far only been assessed in a small number of cases. Therefore, different recommendations exist for patients with mild hyperphenylalaninemia. We investigated in a nationwide study 31 adolescent and adult patients who persistently displayed serum Phe levels between 360 and 600 μM on a normal nutrition with a corresponding genotype. Because of limited accuracy of measurements, Phe levels should be looked on as an approximation, but not as an absolute limit in every instance. In addition to serum Phe levels, the assessment program consisted of comprehensive psychological testing, magnetic resonance imaging of the head, 1H magnetic resonance spectroscopy, and genotyping. We found a normal intellectual (intelligence quotient, 103 ± 15; range, 79–138) and educational (school performance and job career) outcome in these subjects as compared with healthy control subjects (intelligence quotient, 104 ± 11; range, 80–135). Magnetic resonance imaging revealed no changes of cerebral white matter in any patient, and 1H magnetic resonance spectroscopy revealed brain Phe levels below the limit of detection (<200 μM). In the absence of any demonstrable effect, dietary treatment is unlikely to be of value in patients with mild hyperphenylalaninemia and serum Phe levels <600 μM on a free nutrition, and should no longer be recommended. Because of a possible late-onset phenylketonuria, Phe levels of untreated patients should be monitored carefully at least during the first year of life. Nevertheless, problems of maternal phenylketonuria should still be taken into account. More... »

PAGES

532-536

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-200104000-00015

DOI

http://dx.doi.org/10.1203/00006450-200104000-00015

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1044108474

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11264437


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24 schema:description There is international consensus that patients with phenylalanine (Phe) levels <360 μM on a free diet do not need Phe-lowering dietary treatment whereas patients with levels >600 μM do. Clinical outcome of patients showing Phe levels between 360 and 600 μM in serum on a free nutrition has so far only been assessed in a small number of cases. Therefore, different recommendations exist for patients with mild hyperphenylalaninemia. We investigated in a nationwide study 31 adolescent and adult patients who persistently displayed serum Phe levels between 360 and 600 μM on a normal nutrition with a corresponding genotype. Because of limited accuracy of measurements, Phe levels should be looked on as an approximation, but not as an absolute limit in every instance. In addition to serum Phe levels, the assessment program consisted of comprehensive psychological testing, magnetic resonance imaging of the head, 1H magnetic resonance spectroscopy, and genotyping. We found a normal intellectual (intelligence quotient, 103 ± 15; range, 79–138) and educational (school performance and job career) outcome in these subjects as compared with healthy control subjects (intelligence quotient, 104 ± 11; range, 80–135). Magnetic resonance imaging revealed no changes of cerebral white matter in any patient, and 1H magnetic resonance spectroscopy revealed brain Phe levels below the limit of detection (<200 μM). In the absence of any demonstrable effect, dietary treatment is unlikely to be of value in patients with mild hyperphenylalaninemia and serum Phe levels <600 μM on a free nutrition, and should no longer be recommended. Because of a possible late-onset phenylketonuria, Phe levels of untreated patients should be monitored carefully at least during the first year of life. Nevertheless, problems of maternal phenylketonuria should still be taken into account.
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32 Phe levels
33 Phe-lowering dietary treatment
34 absence
35 absolute limit
36 account
37 accuracy
38 addition
39 adult patients
40 approximation
41 brain Phe levels
42 cases
43 cerebral white matter
44 changes
45 clinical outcomes
46 comprehensive psychological testing
47 consensus
48 control subjects
49 corresponding genotypes
50 demonstrable effect
51 detection
52 diet
53 dietary treatments
54 different recommendations
55 educational outcomes
56 effect
57 first year
58 free diet
59 free nutrition
60 genotypes
61 head
62 healthy control subjects
63 hyperphenylalaninemia
64 imaging
65 instances
66 intellectuals
67 international consensus
68 late-onset phenylketonuria
69 levels
70 life
71 limit
72 limit of detection
73 limited accuracy
74 magnetic resonance imaging
75 magnetic resonance spectroscopy
76 maternal phenylketonuria
77 matter
78 measurements
79 mild hyperphenylalaninemia
80 nationwide study 31
81 normal clinical outcome
82 normal intellectual
83 normal nutrition
84 number
85 nutrition
86 outcomes
87 patients
88 phenylalanine levels
89 phenylketonuria
90 possible late-onset phenylketonuria
91 problem
92 program
93 psychological testing
94 recommendations
95 resonance imaging
96 resonance spectroscopy
97 serum
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99 small number
100 spectroscopy
101 study 31
102 subjects
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105 untreated patients
106 untreated subjects
107 values
108 white matter
109 years
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