| PHENYLKETONURIA, FETAL EFFECTS FROM MATERNAL (MPKU) | |
|
261600
OMIM = Online Mendelian Inheritance of Men | |
|
2209 | |
| 1.14.16.1 | |
| 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 |