Abstract
Background
Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorder, caused
by defects in the DDC gene. AADC catalyzes the synthesis of the neurotransmitters dopamine and serotonin
from l-dopa and 5-HT respectively. Most patients are bed ridden for life, with little response
to treatment. We now report one female patient who improved her motor and cognitive
function after being prescribed a MAO-B inhibitor.
Case
A five years old female presented with the typical clinical features of AADC deficiency.
She was floppy, with no head control, had intermittent limb dystonia, and an upward
deviation of the eyes (oculogyric crisis). This patient possessed compound heterozygous
mutations in DDC (p.Trp105Cys, p.Pro129Ser), with a CSF draw indicating abnormal patterns of biogenic
amine metabolites, compatible with AADC deficiency.
Results
After her diagnosis at 3 years of age, medication with levodopa and vitamin B6 failed to show any efficacy.
Subsequent administration with a MAO-B inhibitor improved her psychomotor functions
to the extent that at 5 years of age she could walk several meters with support.
Conclusion
Our analyses of chemical findings, together with in silico structure predictions, lead us to hypothesize that this patient retained some AADC
activity. In these cases, accurate diagnosis and early treatment should improve patient
outcome.
Keywords
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Article info
Publication history
Published online: June 29, 2016
Accepted:
June 4,
2016
Received in revised form:
May 22,
2016
Received:
February 28,
2016
Identification
Copyright
© 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
