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Summary
HYPERPHENYLALANINEMIA DUE TO DHPR-DEFICIENCY
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
BH4-Test
symptoms
Amino acids, plasma
chorea or athetosis
early death
hypersalivation
hyperthermia
hypertonia, spasticity
hypotonia
irritability
lethargy, drowsiness, malaise or sleep disorder
mental retardation
microcephaly (<2 SD for age)
neurological deterioration
pigmentation, skin and sclera
pneumonia
progressive neurologic defect
seizures
skin rash, eczematous or seborrhoic
temperature instability
laboratory finding
L-Phenylalanine180.002500.0021.00137.00-Ámol/lplasma
Dihydropteridin reductase 100.00decreased activityerythrocytes
Biopterin4.0026.001.003.00mmol/mol creatinineurineinfancy
Neopterin0.0023.000.004.00mmol/mol creatinineurineinfancy
Dihydropteridin reductase 100.00decreased activityliver
Dihydropteridin reductase 100.00decreased activityfibroblasts
Dihydropteridin reductase 100.00decreased activityleucocytes
2,4-Dihydroxyglutaric acid25.0094.0044.0077.00%urineinfancy
5-Hydroxyindolacetic acid4.0075.00120.00500.00nmol/lcerebrospinal fluid
Homovanillic acid19.00204.00100.00900.00nmol/lcerebrospinal fluid
EEG abnormalities -
MRI, brain, abnormalities -
CT, brain, abnormalities -
Tetrahydrobiopterin (BH4)0.000.00 positivebloodall
Literature
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Sunami Ret al.Acatalasemia sensitizes renal tubular epithelial cells to apoptosis and exacerbates renal fibrosis after unilateral ureteral obstructionAm J Physiol Renal Physiol28661030-10382004
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Frerman FEGoodman SINuclear encoded defects of the mitochondrial respiratory chain, including Glutaric Acidemia Type IIThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1471611-16291995
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Goth LA novel catalase mutation (a G insertion in exon 2) causes the type B of the Hungarian acatalasemiaClin Chim Acta3112161-1632001
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