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Summary
HYPERPHENYLALANINEMIA DUE TO DHPR-DEFICIENCY (DHPR)
PHENYLKETONURIA II PKU II DIHYDROPTERIDINE REDUCTASE DEFICIENCY ATYPICAL PKU DHPR
261630
OMIM = Online Medalian Inheritance of Men
226
4p15.31

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • BH4 (tetrabiopterin)
  • folinic acid
  • L-Dopa
  • phenylalanine-restricted diet
rare (1:1000000)
autosomal recessive
mutation in the QDPR gene
BH4-Test
symptoms
Amino acids, plasma
basal ganglia, changes, lesions, calcifications (MRI, CT)
chorea or athetosis
drooling
early death
hypersalivation
hyperthermia
hypertonia, spasticity
hypotonia
irritability
lethargy, drowsiness, malaise or sleep disorder
mental retardation
microcephaly (<2 SD for age)
neurological deterioration
onset, childhood
onset, infancy
onset, neonatal
pigmentation, skin and sclera
pneumonia
progressive neurologic defect
seizures
skin rash, eczematous or seborrhoic
temperature instability
laboratory finding
Phenylalanine180.002500.0021.00137.00-Ámol/lplasma
Dihydropteridin reductase 100.00activityerythrocytes
Biopterin 0.503.00mmol/mol creatinineurine
Neopterin0.0023.001.104.00mmol/mol creatinineurineinfancy
Dihydropteridin reductase 100.00activityliverno data
Dihydropteridin reductase 100.00activityfibroblasts
Dihydropteridin reductase 100.00activityleucocytes
2,4-Dihydroxyglutaric acid25.0094.0044.0077.00+€mol/lurine
5-Hydroxyindolacetic acid (5-HIAA)4.0075.00120.00500.00nmol/lcerebrospinal fluid
Homovanillic acid19.00204.00100.00900.00nmol/lcerebrospinal fluid
EEG abnormalities -
MRI, brain, abnormalities -
CT, brain, abnormalities -
Tetrahydrobiopterin (BH4) loadingTest0.000.00 positiveblood
Phenylalanine50.001000.00 mmol/mol creatinineurine
Prolactin ng/mlplasma
Literature
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