This website is organized and funded by PTC Therapeutics AB Sweden for healthcare professionals residing in the Nordics and BeNeLux region.

Patient profiles

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Patient 1: 5-month-old female with developmental delay and dystonia

Not a real patient. Hypothetical profile based on actual patient findings.

History and presentation1

  • Began experiencing temperature instability and problems with breastfeeding immediately after birth
  • Excessive irritability noted at 2.5 months, including being startled by noises and sudden movements
  • Oculogyric crises that began at age 3 months, typically occurring in the late afternoon or evening; with increased frequency and severity over the following 2 to 5 months
  • Axial hypotonia
  • Right-sided head deviation
  • Unable to reach for objects, roll over, or lift head while in prone position
  • Ptosis, miosis, nasal congestion, drooling
  • Treated with clonazepam, which was not effective in mitigating oculogyric crises


  • Brain MRI: normal

Laboratory findings1

  • Metabolic screening: normal
  • Plasma AADC activity: undetectable

CSF neurotransmitter metabolite analysis

Metabolites Results
3-OMD 1439 nmol/LHigh
5-HIAA 9 nmol/L Low
HVA14 nmol/L Low
3-OMD, 3-O-methyldopa; 5-HIAA, 5-hydroxyindoleacetic acid; CSF, cerebrospinal fluid; HVA, homovanillic acid.

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  1. Swoboda KJ, et al. Neurology. 1999;53(6):1205–1211.
  2. Anselm IA, Darras BT. Pediatr Neurol. 2006;35(2):142–144.


SE-AADC-0303 | April 2024

Welcome to AADC Awareness

A website for healthcare professionals, provided by PTC Therapeutics

This educational website provides information to support the early and accurate diagnosis of rare neurotransmitter disorders, including AADC deficiency

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