PKU
Newborn heel prick
PKU is phenylketonuria, a genetic disorder in which the body cannot properly break down the amino acid phenylalanine.
Without treatment, phenylalanine builds up and causes intellectual disability and other problems.
People with PKU must follow a strict low-protein diet.
Newborns are routinely screened for the condition: The baby tested positive for PKU.
Essential protein component
- metabolicOf bodily chemistry
- geneticRelating to heredity
- newborn screeningMedical tests for infants
- intellectual disabilityImpaired reasoning and adaptive skills
tyrosine · inherited · mutation · brain damage · amino acid · metabolism · carrier · cofactor
Fixed method or notation
- aspartameArtificial low-calorie sweetener
- restrictedLimited in scope
- blood levelsMeasured substances in circulation
- dietary managementSupervised control of eating
special foods · meal planning · food diary · tolerance · compliance
Neonatal blood sampling method
- newbornInfant just delivered
- blood spotSmall red skin discoloration
- early detectionFinding something at onset
- dried bloodCoagulated bodily fluid
diagnosis · prevention · mandatory testing · hospital · first week · false positive · public health · early intervention
Leading Chinese research university
- BeijingChina's seat of government
- ChinaEast Asian superpower
- higher educationPost-secondary academic training
- campusInstitutional grounds and buildings
academia · research · undergraduate · graduate · prestigious · enrollment · faculty · alumni
phenylalanine
Essential protein component
- metabolicOf bodily chemistry
- geneticRelating to heredity
- newborn screeningMedical tests for infants
intellectual disability · tyrosine · inherited · mutation · brain damage · amino acid · metabolism · carrier · cofactor · neurological
formula
Fixed method or notation
- aspartameArtificial low-calorie sweetener
- restrictedLimited in scope
- blood levelsMeasured substances in circulation
dietary management · special foods · meal planning · food diary · tolerance · compliance
heel prick
Neonatal blood sampling method
- newbornInfant just delivered
- blood spotSmall red skin discoloration
- early detectionFinding something at onset
dried blood · diagnosis · prevention · mandatory testing · hospital · first week · false positive · public health · early intervention · preventable
Peking University
Leading Chinese research university
- BeijingChina's seat of government
- ChinaEast Asian superpower
- higher educationPost-secondary academic training
campus · academia · research · undergraduate · graduate · prestigious · enrollment · faculty · alumni · rankings
- Genetic Conditionscystic fibrosis, sickle cell, hemophilia, Huntington's disease, Huntington's
- Genetic Disorderscystic fibrosis, hemophilia, sickle cell disease, sickle cell anemia, sickle cell
- Genetic Riskgenetic marker, genetic testing, genetic counseling, gene mutation, predisposition
- Rare Diseasesprogeria, Tay-Sachs, Krabbe disease, tuberous sclerosis, neurofibromatosis
- Genetic SyndromesDown syndrome, fragile X syndrome, DiGeorge syndrome, BRCA1, neurofibromatosis
- infant ailmentsjaundice, respiratory distress, prematurity, low birth weight, apnea
Pathogen-caused transmissible ailment
lifestyle disease · lung cancer · HIV/AIDS · hepatitis · traumatic injury