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Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a defect
of medium chain fatty acid utilization for energy. Consequently
there is therefore little or no tolerance for fasting or hypoglycemic
states. Sudden death or permanent neurologic damage during a metabolic
crises can rapidly ensue.
History and examination
The infant and parent(s) must be seen within the
next day or two following notification from the newborn screening
lab. A METABOLIC PHYSICIAN MUST BE CONSULTED.
History
The infant is most likely to have a normal history. On occasion
however, there is a history of neonatal lethargy, vomiting, seizures
or coma. Since MCADD is an autosomal recessive genetic disorder,
there is a 25% chance that sibs of the identified infant may also
have MCADD. A family history of SIDS or other children in the
family becoming seriously ill is very significant.
Examination
The infant will most likely appear entirely healthy and well.
Neonatal symptoms, while rare, do occur. The sick infant will
be lethargic and have hepatomegaly. Laboratory findings during
neonatal illness will probably include hypoglycemia, metabolic
acidosis, hyperammonemia and abnormal liver function test results,
particularly of coagulation factors (PT, PTT). ANY signs of illness
must be treated as a medical emergency and treated immediately.
Go to Acute
illness protocol, MCADD.
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 the metabolic physician for elevated
C8 
ENSURE THAT THE REPEAT NEWBORN SCREENING SAMPLE
IS SENT TO THE NEWBORN SCREENING LABORATORY AND THE RESULT OBTAINED
ASAP (Go to NNSGRC
for the state labs)
Discussion with parents
for elevated C8 
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