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Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD/TFPDD)
is a defect of fatty acid utilization for energy. Consequently
there is decreased tolerance for fasting or hypoglycemic states.
Sudden death or permanent organ 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 notification 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, cardiomyopathy,
muscle weakness, vomiting, seizures, or coma. Since LCHADD is
an autosomal recessive genetic disorder, there is a 25% chance
that sibs of the identified infant may also have LCHADD. Significant
markers in family history includes other children becoming seriously
ill, having SIDS or, if the childŐs mother had the HELLP syndrome
during pregnancy ( hemolysis, elevated liver
enzymes and low platelets) or acute fatty liver
of pregnancy (AFLP).
Examination
The infant may appear entirely healthy and well. Neonatal signs
include hepatomegaly, tachypnea and/or heart failure. Laboratory
findings during neonatal illness may include hypoglycemia, metabolic
acidosis, hyperammonemia, elevated CPK, elevated lactate, transaminases
and secondary carnitine deficiency. ANY signs of illness
must be treated as a medical emergency and treated immediately.
Go to
Acute Illness Protocol LCHADD
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 metabolic physician
 for
elevated long chain hydroxacyl carnitine profile
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 long chain hydroxacyl carnitine profile
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