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Carnitine palmitoyltransferase I (CPT I deficiency) is an enzyme
that catalyzes the binding of fatty acids to carnitine, forming
the fatty acylcarnitines that allow the transport of fatty acids
into mitochondria where they are oxidized and thus utilized for
energy. In CPT I deficiency the lack of binding to carnitine excludes
the fatty acids from the mitochondria. Consequently there is decreased
tolerance for fasting or any hypoglycemia 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 notification from the newborn screening laboratory.
A METABOLIC PHYSICIAN MUST BE CONSULTED.
History
For CPT I deficiency the infant may have a normal history. On
occasion however, there is a history of neonatal lethargy, acute
liver failure, seizures or coma. Since both these conditions are
autosomal recessive genetic disorders, there is a 25% chance that
sibs of the identified infant may also have CPT I deficiency.
A family history of siblings or other children becoming seriously
ill particularly with liver failure or sudden death is very significant
as is a history of the childŐs mother having the HELLP syndrome
during pregnancy ( hemolysis, elevated liver
enzymes and low platelets) or acute fatty liver
of pregnancy (AFLP).
Examination
The infant may be entirely well. Neonatal signs include seizures,
hepatomegaly and, rarely, arrhythmias and mild cardiomegaly. Laboratory
findings during neonatal illness include hypoglycemia, metabolic
acidosis, hyperammonemia, elevated CK and markedly increased carnitine.
ANY signs of illness must be treated as a medical emergency 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 guidance to prevent any morbidity.
Contact metabolic physician
 for
markedly elevated carnitine profile
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 carnitine profile
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