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Summary
HYPERPHENYLALANIEMIA DUE TO GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE DEFICIENCY
GTP CYCLOHYDROLASE I DEFICIENCY GTPCH DEFICIENCY
233910
OMIM = Online Medalian Inheritance of Men
2102
14q22.1-q22.2
  • biopterin
rare (<1:1000000)
autosomal recessive
BH4- or combined BH4-phenylalanine loading test abnormal
symptoms
feeding difficulties, poor feeding
hypersalivation
hyperthermia
hypertonia, spasticity
hypotonia
irritability
lethargy, drowsiness, malaise or sleep disorder
mental retardation
microcephaly (<2 SD for age)
neurological deterioration
onset, infancy
progressive neurologic defect
seizures
swallowing difficulties
temperature instability
laboratory finding
L-Phenylalanine90.001200.0038.00137.00-Ámol/lplasma
L-Phenylalanine 0.0020.00increasedcerebrospinal fluid
5-Hydroxyindolacetic acid61.00183.00120.00500.00nmol/lcerebrospinal fluid
Homovanillic acid15.0048.00100.00900.00nmol/lcerebrospinal fluid
Guanosine triphosphate cyclohydrolase3.004.00 100.00% of normalliver
Neopterin0.000.000.004.00mmol/mol creatinineurineinfancy
Biopterin0.000.001.003.00mmol/mol creatinineurineinfancy
Biopterin1.507.5010.0050.00nmol/lcerebrospinal fluid
Neopterin0.053.009.0040.00nmol/lcerebrospinal fluid
2,4-Dihydroxyglutaric acid24.0055.0044.0077.00%urineinfancy
2,4-Dihydroxyglutaric acid65.0099.0032.0087.00%cerebrospinal fluid
EEG abnormalities -
Tetrahydrobiopterin (BH4)0.000.00 positiveblood
Literature
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Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
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