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PA (propionic academia) and MMA (methylmalonic academia) are
inborn errors of organic acid metabolism in which the organic
acids derived from the amino acids isoleucine, valine, threonine
and methionine and odd chain fatty acids cannot be fully metabolised
to succinyl-CoA (see diagram below). The organic acid intermediates
that accumulate are toxic. The major initial feature is metabolic
acidosis.
History and Examination
The infant and parent(s) must be seen within the next day or
two following notification from the newborn screening program.
A METABOLIC PHYSICIAN MUST BE CONSULTED.
History
The infant may have a normal history. If the infant has PA or
MMA however, the majority of these children develop symptoms in
the first days or weeks of life. Poor feeding and vomiting can
progress rapidly to coma and death. Seizures occur in about 30%
of affected infants. Since PA and MMA are both autosomal recessive
genetic disorders, there is a 25% chance that sibs of the identified
infant may also have PA or MMA. A family history of other children
in the family becoming seriously ill or having developmental delay
is highly significant.
Examination
The infant will may appear entirely healthy and well. If ill,
the neonatal signs are tachypnea, hypotonia, lethargy, dehydration
and hypoglycemia. ANY signs of illness must be treated
as a medical emergency and treated immediately. Go to Acute illness
protocol, PA
or MMA.
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
morbidity.
Contact the metabolic physician for elevated C3 
Discussion with parents for elevated
C3
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)
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