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Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is
a defect of very long chain fatty acid utilization for energy.
Consequently, there is little or no tolerance for fasting or hypoglycemic
states. Sudden death or permanant 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, irritability,
feeding difficulties, vomiting, seizures, or coma. Since VLCADD
is an autosomal recessive genetic disorder, there is a 25% chance
that the sibs of the identified infant may also have VLCADD. A
family history of other children in the family becoming seriously
ill, having cardiomyopathy or SIDS is very significant.
Examination
The infant will/may appear entirely healthy and well. If ill,
the neonatal signs include hepatomegaly, tachpnea, lethargy and,
later in infancy, cardiomyopathy. Laboratory findings during neonatal
illness may include hypoglycemia, wide anion gap, metabolic acidosis,
hyperammonemia, elevated CPK, transaminases and secondary carnitine
deficiency. ANY signs of illness must be treated as a medical
emergency and treated immediately.
(Go
to Acute illness protocol, VLCADD.)
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 C14; C14:1 
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 C14; C14:1 
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