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.
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Acknowledgments
We thank the patients and their families. We are indebted to Dr Lagavulin for generating helpful discussions.
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Communicated by: Nenad Blau, PhD
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Consortium
N Bahi-Buisson (Service de Neuropédiatrie et Maladies Métaboliques Hôpital Necker Enfants Malades, Paris), JF Benoist (Service de Biochimie Métabolique Hôpital Robert Debré, Paris), A Cano (Service de Neuropédiatrie et Maladies Métaboliques Hôpital La Timone, Marseille), B Chabrol (Service de Neuropédiatrie et Maladies Métaboliques Hôpital La Timone, Marseille), L Damaj (Département de Pédiatrie, Rennes), N Garcia (Service de Neuropédiatrie et Maladies Métaboliques Hôpital Robert Debré, Paris), D Gras (Service de Neuropédiatrie et Maladies Métaboliques Hôpital Robert Debré, Paris), A Küster (Département de Pédiatrie, Nantes), F Moussa (Service de Biochimie Métabolique Hôpital Armand Trousseau, Paris), S Nguyen (Service de Neuropédiatrie, Angers), H Ogier (Service de Biochimie Métabolique Hôpital Robert Debré, Paris), C Ottolenghi (Service de Biochimie Métabolique Hôpital Necker Enfants Malades, Paris), L de Pontual (Département de Pédiatrie CHU Jean Verdier, Bondy), F Rivier (Service de Neuropédiatrie Hôpital Gui de Chauliac, Montpellier), E Roze (Service de Neuropédiatrie et Maladies Métaboliques Hôpital Robert Debré, Paris).
Take-Home Message
Diarrhea might be a major symptom of AADC deficiency and subtle associated symptoms (autonomic dysfunction, sleep disorders) are important to identify, as they might help the clinician to suggest the diagnosis of AADC deficiency and prompt urinary organic acid profile analysis.
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MA Spitz, MA 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 declare that they have no conflict of interest.
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Spitz, M.A. et al. (2016). Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 31. JIMD Reports, vol 31. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_550
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DOI: https://doi.org/10.1007/8904_2016_550
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