Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?
In our phenylketonuria (PKU) cohort of 120 patients, we uncovered a couple of cases of undiagnosed mild phenylketonuria (mPKU)/hyperphenylalaninemia (mHPA) in maternal parents of the PKU cohort. This finding prompted us to evaluate the risk of either mild phenylketonuria or mild hyperphenylalaninemia in the parent population whose children were diagnosed with hyperphenylalaninemia (HPA). Taking into account the phenylalanine hydroxylase (PAH) mutation carrier frequency and the PAH mild mutation rate, we estimated that the prevalence of the parental mPKU/mHPA varied widely, from 1/74 in Turkey to 1/708 in Lithuania. The benefits of the parental detection procedure described here are the prevention of further maternal PKU syndrome, the follow-up of the newly detected patients and the accuracy of the genetic counseling provided to these families. This very simple procedure should be incorporated into neonatal PKU management of the hospitals in countries where a routine systematic neonatal screening is operational.
CHU Brabois, Pôle Enfants, Service de Pédiatrie et de Génétique Clinique, Vandoeuvre les Nancy 54500, France.
A
A
Wiedemann
B
B
Leheup
S-F
SF
Battaglia-Hsu
P
P
Jonveaux
E
E
Jeannesson
F
F
Feillet
D005260:Female; D005817:Genetic Counseling; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D007231:Infant, Newborn; D008097:Lithuania / Q000453:epidemiology; D008297:Male; D009154:Mutation; D059645:Mutation Rate; D015997:Neonatal Screening; D010290:Parents; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D017042:Phenylketonuria, Maternal / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control; D010661:Phenylketonurias / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control; D011247:Pregnancy; D018570:Risk Assessment; D014421:Turkey / Q000453:epidemiology
D010651:Phenylalanine Hydroxylase
Maternal PKU; Mild HPA; Mild PKU; Parents; Phenylketonuria