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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 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 in conjunction with metabolic acidosis. Since
MCADD is an autosomal recessive genetic disorder, there is a
25% chance that siblings of the identified infant may also have
MCADD. A family history of SIDS is very significant. There may
also be a history of other children in the family becoming seriously
ill or dying suddenly in childhood.
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
markedly 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 markedly elevated C8 
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