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Carnitine palmitoyltransferase II (CPT II) is an enzyme that
catalyzes the release of fatty acids from the fatty acylcarnitine
transported across the mitochondrial bi-membrane layer by te translocase.
These two enzymes complete the transport of fatty acids into mitochondria
where they are oxidized and thus utilized for energy. In CPT II
deficiency and translocase deficiency the fatty acylcarnitine
produced from the extramitochondrial fatty acids by CPT I cannot
be transported and converted into utilizable fuel in the mitochondrial
matrix. Consequently, there is decreased tolerance for fasting
or any hypglycemia state wherein energy must be supplied from
fats. Death during a metabolic crisis can ensue.
History and Examination
The infant and parent(s) must be seen within the next day or two
following notfication from the newborn screening lab. A METABOLIC
PHYSICIAN MUST BE CONSULTED.
History
For CPT II deficiency the infant may have a normal history.
In the neonatal form of CPT II deficiency and CT deficiency, there
is a history of neonatal lethargy, cardiomyopathy, seizures or
coma. Since both of these conditions are autosomal recessive genetic
disorders, there is a 25% chance that sibs of the identified infant
may also have CPT II deficiency or translocase deficiency. A family
history of other children becoming seriously ill particularly
with liver failure, hypertrophic cardiomyopathy, arrhythmias or
sudden death is very significant. CPT II deficiency has neonatal, infantile
and adult onset varients.
Examination
The infant may appear entirely well. neonatal signs may include dysmorphic
features, renal dysplasia, neurocortical defects, respiratory
distress, hypoglycemia, seizures, hepatomegaly, arrhythmais and
cardiomegaly. Laboratory findings during neonatal illness include
hypoglycemia, metabolic acidosis, marked hyperammonemia and low
free & total carnitine. Mortality is very high for neonatal
onset cases. ANY signs of illness must be treated as a
medical emergancy and treated immediately by a metabolic physician.
If the child appears well it is still essential to refer to
the metabolic center to ensure that the child and family receive
the necessary treatment and guidence to prevent any morbidity.
Contact the metabolic physicial for markedly
elevated C16 & C18:1 
ENSURE THAT THE REPEAT NEWBORN SCREENING SAMPLE IS SENT TO THE
STATE LABORATORY AND THE RESULT OBTAINED ASAP
(Go to NNSGRC
for the state labs)
Discussion with parents for markedly
elevated C14; C14:1 
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