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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
neurological deterioration
pigmentation, skin and sclera
pneumonia
progressive neurologic defect
seizures
skin rushes
temperature instability
laboratory finding
Phenylalanine180.002500.0038.00137.00-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
% Biopterin25.0094.0044.0077.00%urineinfancy
5-Hydroxyindolacetic acid4.0075.00120.00500.00nmol/lspinal fluid
Homovanillic acid19.00204.00100.00900.00nmol/lspinal fluid
EEG abnormalities -
MRI, brain, abnormalities -
CT, brain, abnormalities -
Tetrahydrobiopterin (BH4) loading test0.000.00 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
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
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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