When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase

Medicine
Simona PortaroEmanuela Mazzon

Abstract

The aromatic L-amino acid decarboxylase (AADC) deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder caused by a deficit of the AADC that is involved in serotonin and dopamine biosynthesis, causing as a consequence, their deficits, but also a lack of norepinephrine and epinephrine, given that dopamine is their precursor. We report the case of a Caucasian 43-year-old woman heterozygous for p.Ser250Phe in DDC, encoding for AADC with a positive family history for behavioral problems. Since adolescence, she manifested behavioral abnormalities. Three months before the admission to our hospital, she presented with a permanent dystonic posture at the 4 limbs with numbness and tingling, diplopia, and low potassium levels. She was treated with muscle relaxants and potassium, but with no results. Olanzapine was administrated, worsening mood problems. Later, after fever, low potassium levels, and increased difficulty to move, she was admitted to the neurology unit where, after bradycardia alternating with atrial and ventricular fibrillation, she had loss of consciousness. She started to complain involuntary parossistic eye and head movements, bilateral ptosis, oculogyric crises with dystonia of the head, muscle hypotro...Continue Reading

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Citations

Jan 8, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Ni-Chung LeeWuh-Liang Hwu

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Methods Mentioned

BETA
sedation
exome sequencing

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