title: Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Département de Pédiatrie, Strasbourg, France.
authors.forename: M A
authors.initials: MA
authors.lastname: Spitz
authors.affiliation: Département de Pédiatrie, Grenoble, France.
authors.forename: M A
authors.initials: MA
authors.lastname: Nguyen
authors.affiliation: Service de Neuropédiatrie et Maladies Métaboliques Hôpital Robert Debré, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Roche
authors.affiliation: Département de Pédiatrie Hôpital Jean Verdier, Bondy, France.|Service de Neuropédiatrie et Maladies Métaboliques Hôpital Armand Trousseau, Paris, France.|Service de Pédiatrie, Hôpital Jean Verdier, Bondy, France.|Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Heron
authors.affiliation: Service de Neuropédiatrie et Maladies Métaboliques Hôpital La Timone, Marseille, France.
authors.forename: M
authors.initials: M
authors.lastname: Milh
authors.affiliation: Service de Neuropédiatrie et Maladies Métaboliques Hôpital Necker Enfants Malades, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: de Lonlay
authors.affiliation: Service de Neuropédiatrie Hôpital Femme Mère Enfant, Lyon, France.
authors.forename: L
authors.initials: L
authors.lastname: Lion-François
authors.affiliation: Département de Pédiatrie, Grenoble, France.|Département de Pédiatrie, Annemasse, France.
authors.forename: H
authors.initials: H
authors.lastname: Testard
authors.affiliation: Département de Pédiatrie, Rennes, France.
authors.forename: S
authors.initials: S
authors.lastname: Napuri
authors.affiliation: Service de Génétique et centres de compétence Maladies Métaboliques, Angers, France.
authors.forename: M
authors.initials: M
authors.lastname: Barth
authors.affiliation: Service d'Hépato-gastro-entérologie pédiatrique, Montpellier, France.
authors.forename: S
authors.initials: S
authors.lastname: Fournier-Favre
authors.affiliation: Service de Biochimie Métabolique Hôpital Necker Enfants Malades, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Christa
authors.affiliation: Service de Biochimie Métabolique Hôpital Femme Mère Enfant, Lyon, France.
authors.forename: C
authors.initials: C
authors.lastname: Vianey-Saban
authors.affiliation: Service de Biochimie Métabolique, Grenoble, France.
authors.forename: C
authors.initials: C
authors.lastname: Corne
authors.affiliation: Service de Neuropédiatrie Hôpital Gui de Chauliac, Montpellier, France. a-roubertie@chu-montpellier.fr.
authors.forename: A
authors.initials: A
authors.lastname: Roubertie
keywords: AADC deficiency; Movement disorders; Neurotransmitters; Oculogyric crises; Vanillactic acid