医
China Med Service
Best doctors, yours
Breaking down language, channel and process barriers in cross-border care — making the best doctors your personal doctors.
300 Grade-A partner hospitals · 3,000+ leading experts · one-stop service across all specialties
湿疹、酮尿、不自主运动、震颤、小头、角弓反张、腱反射亢进、忧郁、惊厥
Phenylketonuria is phenylalanine hydroxylase deficiency; newborn screen; intellectual disability if untreated; low-phenylalanine diet; life-long; maternal PKU.
Newborn screen positive; musty odor; intellectual disability if untreated; fair hair; child; low-phe diet
PAH mutation; autosomal recessive; phenylalanine accumulation.
Low-phenylalanine diet; BH4 selected; life-long; maternal PKU diet in pregnancy; metabolic; newborn screen
Metabolic / pediatrics / genetics / nutrition.
Warm reminder: Health education reference only; seek care at regular hospital.
|
