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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 is most likely to have a normal history. On occasion
however, there is a history of neonatal lethargy, hypotonia, vomiting,
seizures, or coma in conjunction with metabolic acidosis. 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 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 may be
lethargic and have hepatomegaly. Laboratory finding 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 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 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 elevated
C4 
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