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Disorder
PKU
Homocystinuria
Biotinidase deficiency
Maple Syrup Urine
Disease
Hemoglobinopathies,
specifically sickle cell
disease
Congenital
hypothyroidism
Congenital Adrenal
Presentation of
condition
Elevated blood levels of
phenylalanine due to
defect in phenylalanine
hydroxylase
Elevated blood levels of
methionine and
homocysteine due to
defect in cystathione-βsynthase
Depleted levels of biotin
(necessary for
carboxylase activity) due
to defect in biotinidase.
Lethargic newborn.
Caused by enzymatic
defect in branched-chain
α-keto dehydrogenase
(leading to accumulation
of leucine, isoleucine,
valine)
Defect in hemoglobin
structure leading to
sickling of blood
Hypothyroidism
Defect in 21
Outcome of condition
if left untreated
Severe mental
retardation
Tested metabolite
Treatment
Elevated blood
phenylalanine
Dietary restriction of
phenylalanine
Mild mental retardation,
tall stature, ocular lens
detachment
Elevated blood
methionine
Dietary restriction of
methionine or vitamin
B6 supplements
Alopecia (loss of hair),
seborrhea (excessive
secretion of sebum),
seizures, hearing
impairments,
developmental delays
Neurological damage
Biotin
Biotin supplements
Elevated levels of
leucine
Diet low in leucine,
isoleucine, and valine
(low protein diet)
Infections
Hemoglobin
Pneumococcal vaccine,
prophylaxis with
penicillin
Thyroid hormone
replacement
Replace cortisol and
Cretinism (severe mental Thyroid hormone
retardation)
Masculinization, salt17 hydroxyprogesterone
Hyperplasia
Galactosemia
hydroxylase (which
synthesizes
glucocorticoids like
cortisol in body)
Liver toxicity seen in
first 2 weeks causing
jaundice. It is due to
enzymatic defect in
galactokinase, galactose1-phosphate
uridyltransferase, UDPgalactose-4-epimerase
which converts galactose
to glucose
wasting and
hypocortisolism. Death
in males due to saltwasting
Jaundice, liver toxicity
aldosterone
Elevated blood galactose Dietary restriction of
lactose