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

JIMD reports

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.
PMID: 27147232
JIMD Rep. 2017;31:85-93. doi: 10.1007/8904_2016_550. Epub 2016 May 05.

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...

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