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Vocabulary-style flashcards covering diagnostic criteria, symptoms, and nutritional management for Autism, ADHD, Cerebral Palsy, PKU, and Galactosemia.
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Autism Spectrum Disorders (ASD)
A group of developmental disabilities characterized by social skill deficits, speech delays, and repetitive behaviors, typically apparent before age 3 years.
Spastic Quadriplegia
A form of cerebral palsy in which brain damage interferes with voluntary muscle control in both arms and legs.
Phenylketonuria (PKU)
An autosomal recessive genetic disorder resulting from a deficiency of phenylalanine hydroxylase (PAH), preventing the conversion of phenylalanine to tyrosine.
Galactosemia
A genetic disorder caused by the lack of the enzyme uridyl transferase, which prevents the metabolism of galactose into glucose.
Newborn Screening
A blood test (heel stick) usually taken between 24 hours and 7 days after birth to identify infants with metabolic or inherited problems.
Republic Act 9288 (RA 9288)
The law associated with Newborn Screening to identify babies born with metabolic/inherited problems.
Phenylalanine Hydroxylase (PAH)
The liver enzyme responsible for adding a hydroxyl group to phenylalanine to produce the amino acid tyrosine.
Tyrosine
The amino acid produced from phenylalanine that is used to create melanin, epinephrine, norepinephrine, and thyroxin.
BH4 Therapy
A medication known commercially as Kuvan that can increase the activity of phenylalanine-hydroxylase in some people with PKU.
Large Neutral Amino Acid Therapy
A medication for PKU that may help prevent phenylalanine (Phe) from entering the brain.
Galacticol
A substance reduced from galactose in the blood that accumulates in the eye and causes cataracts in individuals with galactosemia.
Cerebral Palsy (CP)
A shorthand name for a wide range of conditions involving muscle coordination problems and developmental delays, with a prevalence of 2.0−2.5 per 1000 children.
Inborn Errors of Metabolism
Genetic errors that alter the production of protein, often characterized by a missing enzyme leading to the accumulation of toxic substrates.
Psychostimulants
Medications for ADHD that can cause side effects such as decreased appetite, weight loss, or slow growth.
Casein and Gluten
Substances found in milk and grains that some families restrict to improve ASD symptoms, though such restriction is not officially recommended.
Phenylpyruvic Acid
A ketone body produced in the kidneys of individuals with PKU when phenylalanine accumulates and conversion to tyrosine is impaired.