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Summary
PHENYLKETONURIA, FETAL EFFECTS FROM MATERNAL (MPKU)
261600
OMIM = Online Medalian Inheritance of Men
2209
13q23.2

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • low-phenylalanine diet during pregnancy
Definition: Elevated Phenylalanine in a mother with phenylketonuria causes damage to the fetus during pregnancy. Severity of intrauterine damage is dependent from the concentration of phenylalanine in the mothers blood Underlying defect: Phenylketonuria is caused mainly by a deficiency of phenylalanine hydroxylase in the liver and causes high phenylalanine in body fluids and excretion of organic acids in urine Diagnosis: Diagnosis is usually made in the newborn by the neonatal screening program (Guthrie test). Amino acid measurement in dried blood (filter paper) or serum/plasma (200 -¦+-ól) is the method of choice. Undiagnosed untreated patients may also be detected by analyzing organic acids in urine. Tetrahydrobiopterin (BH4) deficiency should be excluded by a BH4 loading test measuring blood phenylalanine before and after load and measurement of pterines in urine. Mutational analysis of the PAH-gene confirms the diagnosis. Knowledge of mutations is of help in the management of dietary treatment and in the evaluation of BH-sensitivity in mild phenylketonuria.
symptoms
birthweight low (small for gestational age)
congenital heart defect
epicanthus or medial eyelid fold
exposure to phenylalanine during gestation
growth retardation
hypertonia, spasticity
mental retardation
microcephaly
short philtrum
laboratory finding
Phenylalanine increasedserum
no specific laboratory findings
Literature
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Sewell ACKrille M, Wilhelm ISarcosinaemia in a retarded, amaurotic childEur J Pediatr1445508-5101986
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
Strehle EMet al.Sialic acid storage disease and related disordersGenet Test72113-1212003
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
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
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Pelkonen RKivirikko KJHydroxyprolineamiaN Engl J Med2830451-4531970
Wreden CCWlizla M, Reimer RJVaried mechanisms underlie the free sialic acid storage disordersJ Biol Chem28021408-14162005
Webster DRet al.Hereditary orotic aciduria and disorders of pyrimidine 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.201799-18371995
Mudd SHLevy HL, Skovby FDisorders of transsulfurationThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101279-13271995
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
Morin PSagne C, Gasnier BFunctional characterization of wild-type and mutant human sialin.EMBO J23234560-45702004
Xia JHet al.Molecular clonging of the human dimethyglycine dehydrogenase-like gene (DMGDHL1) from the sarcosinemia critical region at 9q34Yi Chuan Xue Bao266591-5971999
Wreden CCWlizla M, Reimer RJVaried mechanisms underlie the free sialic acid storage disordersJ Biol Chem28021408-14162005