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PHENYLKETONURIA, FETAL EFFECTS FROM MATERNAL (MPKU)

PHENYLKETONURIA, FETAL EFFECTS FROM MATERNAL (MPKU)
261600
OMIM = Online Mendelian Inheritance of Men
2209
1.14.16.1
13q23.2

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
E70.1
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 ´+¢l) 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.
Laboratory findings    no specific laboratory findings (P, S, U ,CSF) ()
    Phenylalanine inc (serum)
Symptoms   aorta, coarction
   congenital heart defect
   exposure to phenylalanine during gestation
   growth retardation, poor growth
   intellectual disability/intellectual developmental disorder
   low birthweight (small for gestational age)
   mental retardation
   microcephaly (<2 SD for age)
   small for gestational age (SGA), intrauterine growth retardation (IUGR)
   ventricular septal defect
    epicanthus or medial eyelid fold
    hypertonia, spasticity
    no clinical symptoms (probably)
    onset, infancy
    onset, neonatal
    short philtrum
    tetralogy of fallot