Visit Metagene.de!
Summary
PHENYLKETONURIA (PKU)
HYPERPHENYLALANINEMIA, MILD, INCLUDED HPA, INCLUDED
261600
OMIM = Online Medalian Inheritance of Men
716
12q23.2

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • amino acid mixture
  • BH4 (tetrabiopterin)
  • phenylalanine-restricted diet
  • vitamin B12 (hydroxycobalamin)
1:5000-10000
autosomal recessive
phenylalanine concentrations in plasma:
- classical PKU: > 20 mg/dl
- mild PKU: 10-20 mg/dl
- Hyperphenylalaninemia (HPA): < 10 mg/dl
symptoms
Amino acids, plasma
behavior, hyperactive, restless
blue eyes
embryopathy
fair (white) hair
hypertonia, spasticity
irritability
mental retardation
microcephaly (<2 SD for age)
mousy body odor
onset, childhood
onset, neonatal
Organic acids, urine
pigmentation, skin and sclera
seizures
skin rash, eczematous or seborrhoic
small for gestational age (SGA), intrauterine growth retardation (IUGR)
unusual odor / odour
vomiting
laboratory finding
Phenylpyruvic acid300.001000.000.004.00mmol/mol creatinineurine
Phenyllactic acid200.001000.000.002.00mmol/mol creatinineurine
ortho-Hydroxyphenylacetic acid50.002000.000.002.00mmol/mol creatinineurine
L-Phenylalanine800.002000.0021.00137.00-Ámol/lplasma
4-Hydroxyphenyllactic acid0.000.00 increasedurineno data
EEG abnormalities -
MRI, brain, white matter abnormalities -
Ferric chloride reaction greenurine
Phenylalanine/Tyrosine2.5050.000.201.21ratio plasma
L-Phenylalanine 0.0020.00increasedcerebrospinal fluid
L-Phenylalanine0.000.00 increasedurineno data
L-Tyrosine0.000.00 decreasedurineno data
Phenylacetic acid0.000.00 increasedurineno data
N-Acetylphenylalanine0.000.00 increasedurineno data
5-Hydroxyindolacetic acid0.000.00 normal-decreasedcerebrospinal fluid
Homovanillic acid0.000.00 normal-decreasedcerebrospinal fluid
Biopterin increasedurine
Neopterin increasedurine
Literature
Lee HHThe chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiencyJ Hum Genet49265-722004
Al-Essa Met al.18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlationsBrain Dev21124-291999
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
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
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Barbaro Met al.Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasiaJ Clin Endocrinol Metab8952402-24072004
Willard HFet al.Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutantAm J Hum Genet3011-131978
Vaz FMet al.Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolismJ Biol Chem2784443089-942003
Gitzelmann RSteinmann B, van den Berghe GDisorders of fructose metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.10905-9341995
Rystedt Eet al.Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sistersJ Intern Med2523259-2642002
Stephenson TZuccollo J, Mohajer MDiagnosis and management of non-immune hydrops in the newbornArch Dis Child Fetal Neonatal Ed.700F151-F1541994
Eschenbrenner MJorns MSCloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemiaGenomics593300-3081999
Pantaleoni Cet al.A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsyPediatr Neurol235442-4442000
Ruesch Set al.Combined 3-methylglutaconic and 3-hydroxy-3-methylglutaric aciduria with endocardial fibroelastosis and dilatative cardiomyopathy in male and female siblings with partial deficiency of complex II/III in fibroblastsEnzyme Protein490321-3291996
Strehle EMet al.Sialic acid storage disease and related disordersGenet Test72113-1212003
Hicks Pet al.Heterozygosity for long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and deterioration in liver function in a newborn infant infected with human immunodeficiency virusJ Pediatr1274599-6021995
Aracena Met al.Mucolipidoses type II. Case reportRev Med Chil1313314-3192003
Tran QHet al.Spinal anesthesia for a patient with type I sialidosis undergoing abdominal surgeryActa Anaesthesiol Scand457919-9212001
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Heller Ret al.Cerebrotendinous xanthomatosis, a treatable metabolic disorderNervenarzt73121160-11662002
Schlame Met al.Phospholipid abnormalities in children with Barth syndromeJ Am Coll Cardiol42111994-19992003
Barth PGet al.X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).J Inherit Metab Dis224555-5671999
Treacy EPitt J, Eggington M, Hawkins RDicarboxylic aciduria, significant and prognostic indicationsEur J Pediatr15309181994
Uchino Tet al.Three brothers with progressive hepatic dysfunction and severe hepatic steatosis due to a patent ductus venosusGastroenterology11001964-19681996
Wilkinson HSamuell C, Stower M2,8-Dihydroxyadenine renal stones in a 41-year-old manAnn Clin Biochem410161-1612004
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Anikster Yet al.Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi JewsAm J Hum Genet6961218-12242001
Broide EElpeleg O, Lahat EType IV 3-methylglutaconic (3-MGC) aciduria: a new case presenting with hepatic dysfunctionPediatr Neurol174353-3551997
Binzak BAet al.Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiencyAm J Hum Genet684839-8472001
Pie Jet al.A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyBiochem J3232329-3351997
Crowther DCet al.Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathiesEur J Hum Genet123167-1722004
Tran QHet al.Spinal anesthesia for a patient with type I sialidosis undergoing abdominal surgeryActa Anaesthesiol Scand457919-9212001
Scriver CRGibson KMDisorders of beta and gamma-amino acids in free and peptide-linked formsThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101349-13681995
Lutfallah Cet al.Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiencyJ Clin Endocrinol Metab8762611-26222002
Steiner RDet al.Nonketotic hyperglycinemia: atypical clinical and biochemical manifestationsJ Pediatr1280243-2461996
Devi AR,et al.Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian familyJ Hum Genet519811-8142006
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Braverman NE,DAgostino MD, Maclean GEPeroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectivesDev Disabil Res Rev173187-1962013
Hiraga KSarcosinemia associated with folate deficiencyRyoikibetsu Shokogun Shirizu181224-2261998
Seyama YCholestanol metabolism, molecular pathology, and nutritional implicationsJ Med Food63217-2242003
Rodriguez Criado Get al.Clinical variability of type II sialidosis by C808T mutationAm J Med Genet A1164368-3712003
Niederwieser A,et al.Hydantoin-5-propionic aciduria in folic acid nondependent formiminoglutamic aciduria observed in two siblingsPediatr Res1104215-2191976
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
Charnas LRNussbaum RLThe oculocerebrorenal syndrome of Lowe (Lowe syndrome)The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.31233705-37161995
Wanders RJAet al.Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cellsJ Inher Met Dis Suppl.18090-991995
Goodman SIet al.Homocystinuria with methylmalonic aciduria: two cases in a sibshipBiochem Med48500-5151970
Zupanc MLLegros BProgressive myoclonic epilepsyCerebellum33156-1712004
Saarela TSimil+ñ S, Koivisto MHypercalcemia and nephrocalcinosis in patients with congenital lactase defeciencyJ Pediatr1276920-9231995
Holton JBGalactosemia: pathogenesis and treatmentJ Inherit Metab Dis19031996
Dunckelmann RJet al.2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduriaNeuropediatrics31135-382000
Lyons MAMaeda N, Brown AJParadoxical enhancement of hepatic metabolism of 7-ketocholesterol in sterol 27-hydroxylase-deficient miceBiochim Biophys Acta15813119-1262002
Strehle EMet al.Sialic acid storage disease and related disordersGenet Test72113-1212003
Binzak BAet al.Structure and analysis of the human dimethylglycine dehydrogenase geneMol Genet Metab693181-1872000
Liao XYZhang YF, Gu XFCYP21 gene point mutations study in 21-hydroxylase deficiency patientsZhonghua Er Ke Za Zhi419670-6742003
Suormala Tet al.The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesisJ Biol Chem279042742-492004
Zupanc MLLegros BProgressive myoclonic epilepsyCerebellum33156-1712004