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Short Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) is a defect
of short 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
crisis can rapidly 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
The infant may have a normal history. On occasion however,
there is a history of neonatal lethargy, hypotonia, vomiting,
seizures, or coma. Since SCADD is an autosomal recessive genetic
disorder, there is a 25% chance that sibs of the indentified infant
may also have SCADD. A family history of SIDS or other children
in the family becoming seriously ill is 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 finding during
neonatal illness may include hypoglycemia, wide anion gap, metabolic
acidosis (anion = dicarboxylic acid), hyperammonemia, elevated
urea, uric acid, transaminases and secondary carnitine deficiency.
ANY signs of illness must be considered a medical emergency
and treated immediately. Go
to Acute illness protocol, SCADD
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 C4 
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 C4 
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