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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 anti-epileptic medication, which was not effective in mitigating oculogyric crises

Imaging1

  • Brain MRI: normal

Laboratory findings1

  • Metabolic screening: normal
  • Plasma AADC activity: undetectable

CSF neurotransmitter metabolite analysis

Metabolites Results
3-OMD 1439 nmol/L*High
5-HIAA 9 nmol/L*Low
HVA14 nmol/L*Low
PterinsNormalNormal

3-OMD, 3-O-methyldopa; 5-HIAA, 5-hydroxyindoleacetic acid; CSF, cerebrospinal fluid; HVA, homovanillic acid.
*Actual values for this patient case study were not available, so hypothetical values were added. Reference ranges vary by laboratory and patient age, and hypothetical values were based on reference ranges of <300 nmol/L for 3-OMD, 63–503 nmol/L for 5-HIAA and 176–955 nmol/L for HVA.1

 

  1. Swoboda KJ, et al. Neurology. 1999;53(6):1205–1211.

 

Welcome to AADC Insights

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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