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Summary
HYPERPHENYLALANINEMIA DUE TO 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY (PTPS)
PHENYLKETONURIA III BIOPTERIN SYNTHESIS DEFICIENCY PKU III PTPS
261640
OMIM = Online Medalian Inheritance of Men
13
11q22.2-q23.3
  • 5-hydroxytryptophane
  • BH4 (tetrabiopterin)
  • carbidopa
  • L-Dopa
rare
autosomal recessive
typical and atypical peripheral form
Diagnosis: BH4-Test normalisation of plasma phenylalanine after BH4 load (20 mg/kg bw)
symptoms
Amino acids, plasma
ataxia
chorea or athetosis
early death
fever
hypersalivation
hyperthermia
hypertonia, spasticity
hypotonia
irritability
mental retardation
microcephaly (<2 SD for age)
neurological deterioration
oculogyric crisis
onset, infancy
onset, neonatal
Organic acids, urine
pneumonia
progressive neurologic defect
seizures
skin rash, eczematous or seborrhoic
small for gestational age (SGA), intrauterine growth retardation (IUGR)
swallowing difficulties
temperature instability
laboratory finding
L-Phenylalanine240.002500.0021.00137.00-Ámol/lplasma
Biopterin0.000.001.003.00mmol/mol creatinineurineinfancy
Neopterin5.0051.000.004.00mmol/mol creatinineurineinfancy
6-Pyruvoyl tetrahydropterin synthase 100.00decreased activityerythrocytes
6-Pyruvoyl tetrahydropterin synthase 100.00decreased activityliver
2,4-Dihydroxyglutaric acid0.005.0044.0077.00%urineinfancy
Neopterin11.00449.009.0040.00nmol/lcerebrospinal fluid
Biopterin0.8042.0010.0050.00nmol/lcerebrospinal fluid
2,4-Dihydroxyglutaric acid1.009.0032.0087.00%cerebrospinal fluid
5-Hydroxyindolacetic acid5.00154.00120.00500.00nmol/lcerebrospinal fluid
MRI, brain, white matter abnormalities -
EEG abnormalities -
Homovanillic acid0.000.00 decreasedcerebrospinal fluidall
Tetrahydrobiopterin (BH4)0.000.00 positivebloodall
Literature
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
Dobson CMet al.Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangementsProc Natl Acad Sci U S A992415554-92002
Phelan JKMcCabe ERMutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenitaHum Mutat186472-4872001
Al-Shali Ket al.Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemiaClin Genet632135-1382003
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
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
Goodman SIFrerman FEOrganic acidemias due to defects in lysine oxidation:2-ketoadipic acidemia and glutaric acidemiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1421451-14601995
Hershfield MSGenotype is an important determinant of phenotype in adenosine deaminase deficiencyCurr Opin Immunol155571-5772003