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Summary
HYPERPHENYLALANINEMIA DUE TO PTERIN-4a-CARBINOLAMINE DEHYDRATASE
PTERIN-4a-CARBINOLAMINE DEHYDRATASE DEFICIENCY PRIMAPTERINURIA PCD DEFICIENCY
264070
OMIM = Online Medalian Inheritance of Men
1578
10q22
rare autosomal recessive benign form of hyperphenylalaninemia [Thony et al. 1998]
symptoms
diabetes mellitus
hypertonia, spasticity
hypotonia
laboratory finding
Phenylalanine180.001200.0038.00137.00-Ámol/lplasma
Neopterin4.0022.000.004.00mmol/mol creatinineurineinfancy
Biopterin1.001.001.003.00mmol/mol creatinineurineinfancy
Primapterin0.001.000.000.00mmol/mol creatinineurineinfancy
EEG abnormalities -
Tetrahydrobiopterin (BH4)0.000.00 positivebloodall
Magnesium0.000.00 normal-decreasedplasmaadolescence
Magnesium0.000.00 increasedurineadolescence
Literature
Chitayat Det al.3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a new type (type 4)J Inherit Metab Dis152204-2121992
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Matsuo Met al.Screening for Menkes disease using the urine HVA/VMA ratioJ Inherit Metab Dis28189-932005
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
de Koning TJet al.A novel disorder of N-glycosylation due to phosphomannose isomerase deficiencyBiochem Biophys Res Commun245038-421998
Hogema BMet al.Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenaseNat Genet292212-2162001