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Spitz MA, Nguyen MA, Roche S, et al. Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients. JIMD Rep. 2016;31:85-93doi: 10.1007/8904_2016_550.
Spitz, M. A., Nguyen, M. A., Roche, S., Heron, B., Milh, M., de Lonlay, P., Lion-François, L., Testard, H., Napuri, S., Barth, M., Fournier-Favre, S., Christa, L., Vianey-Saban, C., Corne, C., & Roubertie, A. (2017). Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients. JIMD reports, 3185-93. https://doi.org/10.1007/8904_2016_550
Spitz, M A, et al. "Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients." JIMD reports vol. 31 (2017): 85-93. doi: https://doi.org/10.1007/8904_2016_550
Spitz MA, Nguyen MA, Roche S, Heron B, Milh M, de Lonlay P, Lion-François L, Testard H, Napuri S, Barth M, Fournier-Favre S, Christa L, Vianey-Saban C, Corne C, Roubertie A. Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients. JIMD Rep. 2017;31:85-93. doi: 10.1007/8904_2016_550. Epub 2016 May 05. PMID: 27147232; PMCID: PMC5272843.
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JIMD Rep. 2017;31:85-93. doi: 10.1007/8904_2016_550. Epub 2016 May 05.

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

JIMD reports

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 Roubertie

Affiliations

  1. Département de Pédiatrie, Strasbourg, France.
  2. Département de Pédiatrie, Grenoble, France.
  3. Service de Neuropédiatrie et Maladies Métaboliques Hôpital Robert Debré, Paris, France.
  4. Département de Pédiatrie Hôpital Jean Verdier, Bondy, France.
  5. Service de Neuropédiatrie et Maladies Métaboliques Hôpital Armand Trousseau, Paris, France.
  6. Service de Pédiatrie, Hôpital Jean Verdier, Bondy, France.
  7. Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, Paris, France.
  8. Service de Neuropédiatrie et Maladies Métaboliques Hôpital La Timone, Marseille, France.
  9. Service de Neuropédiatrie et Maladies Métaboliques Hôpital Necker Enfants Malades, Paris, France.
  10. Service de Neuropédiatrie Hôpital Femme Mère Enfant, Lyon, France.
  11. Département de Pédiatrie, Annemasse, France.
  12. Département de Pédiatrie, Rennes, France.
  13. Service de Génétique et centres de compétence Maladies Métaboliques, Angers, France.
  14. Service d'Hépato-gastro-entérologie pédiatrique, Montpellier, France.
  15. Service de Biochimie Métabolique Hôpital Necker Enfants Malades, Paris, France.
  16. Service de Biochimie Métabolique Hôpital Femme Mère Enfant, Lyon, France.
  17. Service de Biochimie Métabolique, Grenoble, France.
  18. Service de Neuropédiatrie Hôpital Gui de Chauliac, Montpellier, France. [email protected].

PMID: 27147232 PMCID: PMC5272843 DOI: 10.1007/8904_2016_550

Abstract

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.

Keywords: AADC deficiency; Movement disorders; Neurotransmitters; Oculogyric crises; Vanillactic acid

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