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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
congenital heart defect
epicanthus or medial eyelid fold
exposure to phenylalanine during gestation
growth retardation
hypertonia, spasticity
mental retardation
microcephaly (<2 SD for age)
short philtrum
small for gestational age (SGA), intrauterine growth retardation (IUGR)
laboratory finding
L-Phenylalanine increasedserum
no specific laboratory findings
Literature
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Strehle EMet al.Sialic acid storage disease and related disordersGenet Test72113-1212003
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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