When should I talk to my child’s doctor about AADC deficiency?

doctor with child

Unfortunately, knowing when to talk to the doctor about AADC deficiency can be difficult due to overlapping symptoms.1,2 Other conditions—including epilepsy, cerebral palsy, and neuromuscular weakness—will result in signs and symptoms similar to those of AADC deficiency.1,2 This can lead to improper or delayed treatment.1,2

Most children have severe symptoms, including:

  • Impaired physical development
  • Overall decreased bodily movements
  • Decreased muscle tone
  • Prolonged involuntary upward deviation of the eyes
  • Upper eyelid drooping
  • Uncontrollable muscle contractions

They might also experience autonomic dysfunction, which is the inability to regulate nonvoluntary body functions, such as heart rate, blood pressure, and sweating.3-5 If your child has unexplained low muscle tone that is not improving, there are other symptoms to look for to help you decide if it is time to talk with your child's doctor about AADC deficiency or other similar conditions.

Consider speaking to your child's doctor about testing for AADC deficiency if your child has the following symptoms:

  • Unexplained hypotonia (poor muscle tone)
  • Abnormal movements, especially involuntary eye movements
  • Missed developmental milestones
  • Excessive sweating, droopy eyelids, and a stuffy or runny nose

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Resources

1. Lee, WT. Disorders of monoamine metabolism: inherited disorders frequently misdiagnosed as epilepsy. Epilepsy Seizure. 2010;3:147-153.

2. Ng J, Papandreou A, Heales SJ, Kurian MA. Monoamine neurotransmitter disorders—clinical advances and future perspectives. Nat Rev Neurol. 2015;11(10):567-584.

3. Brun L, Ngu LH, Keng WT, et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010;75(1):64-71.

4. Manegold C, Hoffmann GF, Degen I, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis. 2009;32(3):371-380.

5. Wassenberg T, Molero-Luis M, Jeltsch K, et al. Consensus guideline for the diagnosis and treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12(1):12.

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