Late diagnosis of phenylketonuria in a Bedouin mother.
We report on the first case of phenylketonuria in a Bedouin woman with 3 children having the phenylketonuria embryofetopathy. Herein, we discuss briefly hazards of late diagnosis of maternal phenylketonuria.
Usha
R
R
Paediatric Department, Al-Jahra Hospital, Kuwait.
Uma
R
R
Farag
T I
TI
Girish
Y
Y
al-Ghanim
M M
MM
al-Najdi
K
K
al-Awadi
S A
SA
el-Badramany
M H
MH
D000026:Abortion, Habitual / Q000209:etiology; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005315:Fetal Diseases / Q000209:etiology*; D006330:Heart Defects, Congenital / Q000196:embryology / Q000209:etiology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000196:embryology / Q000209:etiology; D008297:Male; D008431:Maternal-Fetal Exchange; D008831:Microcephaly / Q000196:embryology / Q000209:etiology; D010649:Phenylalanine / Q000008:administration & dosage / Q000378:metabolism; D010661:Phenylketonurias / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications; D014443:Tyrosine / Q000097:blood
D014443:Tyrosine; D010649:Phenylalanine