Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

  • M. A. Spitz
  • M. A. Nguyen
  • S. Roche
  • B. Heron
  • M. Milh
  • P. de Lonlay
  • L. Lion-François
  • H. Testard
  • S. Napuri
  • M. Barth
  • S. Fournier-Favre
  • L. Christa
  • C. Vianey-Saban
  • C. Corne
  • A. RoubertieEmail author
Research Report
Part of the JIMD Reports book series (JIMD, volume 31)


Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin biosynthesis. Cardinal signs consist in psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms.

Patients and methods: We present a retrospective descriptive multicentric study concerning ten French children with a biochemical and molecular confirmed diagnosis of AADC deficiency.

Results: Clinical presentation of most of our patients was consistent with the previous descriptions from the literature (hypotonia (nine children), autonomic signs (nine children), sleep disorders (eight children), oculogyric crises (eight children), motor disorders like hypertonia and involuntary movements (seven children)). We described however some phenotypic particularities. Two patients exhibited normal intellectual abilities (patients already described in the literature). We also underlined the importance of digestive symptoms like diarrhea, which occurred in five among the ten patients. We report in particular two children with chronic diarrhea, complicated by severe failure to thrive. Vanillactic acid (VLA) elevation in urines of one of these two patients led to suspect the diagnosis of AADC deficiency, as in two other patients from our population.

Conclusion: Some symptoms like chronic diarrhea were atypical and have been poorly described in the literature up to now. Diagnosis of the AADC deficiency is sometimes difficult because of the phenotypic heterogeneity of the disease and VLA elevation in urines should suggest the diagnosis.


AADC deficiency Movement disorders Neurotransmitters Oculogyric crises Vanillactic acid 



We thank the patients and their families. We are indebted to Dr Lagavulin for generating helpful discussions.


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • M. A. Spitz
    • 1
  • M. A. Nguyen
    • 2
  • S. Roche
    • 3
  • B. Heron
    • 4
    • 5
    • 6
    • 7
  • M. Milh
    • 8
  • P. de Lonlay
    • 9
  • L. Lion-François
    • 10
  • H. Testard
    • 2
    • 11
  • S. Napuri
    • 12
  • M. Barth
    • 13
  • S. Fournier-Favre
    • 14
  • L. Christa
    • 15
  • C. Vianey-Saban
    • 16
  • C. Corne
    • 17
  • A. Roubertie
    • 18
    Email author
  1. 1.Département de PédiatrieStrasbourgFrance
  2. 2.Département de PédiatrieGrenobleFrance
  3. 3.Service de Neuropédiatrie et Maladies Métaboliques Hôpital Robert DebréParisFrance
  4. 4.Département de Pédiatrie Hôpital Jean VerdierBondyFrance
  5. 5.Service de Neuropédiatrie et Maladies Métaboliques Hôpital Armand TrousseauParisFrance
  6. 6.Service de PédiatrieHôpital Jean VerdierBondyFrance
  7. 7.Service de Neurologie Pédiatrique, Hôpital Armand TrousseauParisFrance
  8. 8.Service de Neuropédiatrie et Maladies Métaboliques Hôpital La TimoneMarseilleFrance
  9. 9.Service de Neuropédiatrie et Maladies Métaboliques Hôpital Necker Enfants MaladesParisFrance
  10. 10.Service de Neuropédiatrie Hôpital Femme Mère EnfantLyonFrance
  11. 11.Département de PédiatrieAnnemasseFrance
  12. 12.Département de PédiatrieRennesFrance
  13. 13.Service de Génétique et centres de compétence Maladies MétaboliquesAngersFrance
  14. 14.Service d’Hépato-gastro-entérologie pédiatriqueMontpellierFrance
  15. 15.Service de Biochimie Métabolique Hôpital Necker Enfants MaladesParisFrance
  16. 16.Service de Biochimie Métabolique Hôpital Femme Mère EnfantLyonFrance
  17. 17.Service de Biochimie MétaboliqueGrenobleFrance
  18. 18.Service de Neuropédiatrie Hôpital Gui de ChauliacMontpellierFrance

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