Visualisation of impaired dopamine biosynthesis in a case of aromatic l-amino acid decarboxylase deficiency by co-registered 18F-FDOPA PET and magnetic resonance imaging

2004 ◽  
Vol 32 (4) ◽  
pp. 517-517 ◽  
Author(s):  
Hung-Jen Hsieh ◽  
Sheng-Hsiang Lin ◽  
Hon-Man Liu
Keyword(s):  
Magnetic Resonance Imaging ◽  
Amino Acid ◽  
Magnetic Resonance ◽  
Acid Decarboxylase ◽  
Resonance Imaging ◽  
Amino Acid Decarboxylase ◽  
Dopamine Biosynthesis ◽  
Decarboxylase Deficiency

Aromatic L-Amino Acid Decarboxylase Deficiency: Diagnostic Methodology

1992 ◽  
Vol 38 (12) ◽  
pp. 2405-2410 ◽  
Author(s):  
K Hyland ◽  
P T Clayton
Keyword(s):  
Cerebrospinal Fluid ◽  
Amino Acid ◽  
Inborn Error ◽  
Gas Chromatography Mass Spectrometry ◽  
Dopa Decarboxylase ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
Dopamine Biosynthesis ◽  
Hydroxyindoleacetic Acid ◽  
Decarboxylase Deficiency

Abstract Aromatic L-amino acid decarboxylase (EC. 4.1.1.28) deficiency is a newly described inborn error of metabolism that affects serotonin and dopamine biosynthesis. The major biochemical markers for this disease are increases of L-dopa, 3-methoxytyrosine, and 5-hydroxytryptophan in urine, plasma, and cerebrospinal fluid together with decreased cerebrospinal fluid concentrations of homovanillic acid and 5-hydroxyindoleacetic acid. In addition, concentrations of vanillactic acid are increased in the urine. Specific HPLC and gas chromatography-mass spectrometry methods are described that permit the identification and measurement of these metabolites in the above body fluids. Simplified assays for human plasma L-dopa decarboxylase and liver L-dopa and 5-hydroxytryptophan decarboxylase, used to demonstrate the enzyme deficiency, are also reported.

Atypical Presentation of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency with Developmental Epileptic Encephalopathy

2021 ◽  
Author(s):  
Francesca Marchese ◽  
Elena Faedo ◽  
Maria Stella Vari ◽  
Patrizia Bergonzini ◽  
Michele Iacomino ◽  
...  
Keyword(s):  
Amino Acid ◽  
Autosomal Recessive ◽  
Epileptic Encephalopathy ◽  
Dopa Decarboxylase ◽  
Acid Decarboxylase ◽  
Homozygous Mutation ◽  
Amino Acid Decarboxylase ◽  
Pathogenic Variants ◽  
Neurological Features ◽  
Decarboxylase Deficiency

AbstractAromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder resulting from disease-causing pathogenic variants of the dopa decarboxylase (DDC) gene. The neurological features of AADC deficiency include early-onset hypotonia, oculogyric crises, ptosis, dystonia, hypokinesia, impaired development, and autonomic dysfunction. We report a patient with genetically confirmed AADC deficiency presenting with developmental epileptic encephalopathy (DEE). We report a boy with severe intractable epileptic spasms and DEE. The patient was evaluated for cognitive and neurologic impairment. Exome sequencing revealed a homozygous mutation (NM_000790.4:c.121C > A; p.Leu41Met) in the DDC gene. This case expands the clinical spectrum of AADC deficiency and strengthens the association between dopa decarboxylase deficiency and epilepsy. Additional studies are warranted to clarify the mechanisms linking dopa decarboxylase dysfunction to DEE.

Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency

2013 ◽  
Vol 28 (4) ◽  
pp. 556-557 ◽  
Author(s):  
Mario Mastrangelo ◽  
Caterina Caputi ◽  
Serena Galosi ◽  
Maria Teresa Giannini ◽  
Vincenzo Leuzzi
Keyword(s):  
Amino Acid ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
Decarboxylase Deficiency

Gene therapy improves brain white matter in aromatic l‐amino acid decarboxylase deficiency

2019 ◽  
Vol 85 (5) ◽  
pp. 644-652 ◽  
Author(s):  
Chih‐Hsien Tseng ◽  
Yin‐Hsiu Chien ◽  
Ni‐Chung Lee ◽  
Yung‐Chin Hsu ◽  
Shinn‐Forng Peng ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Amino Acid ◽  
White Matter ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
Brain White Matter ◽  
Decarboxylase Deficiency

Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency

2020 ◽  
Vol 51 (03) ◽  
pp. 229-232
Author(s):  
J. Micallef ◽  
S. Stockler-Ipsiroglu ◽  
C.D. van Karnebeek ◽  
R. Salvarinova-Zivkovic ◽  
G. Horvath
Keyword(s):  
Amino Acid ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Global Developmental Delay ◽  
Acid Decarboxylase ◽  
First Year ◽  
Amino Acid Decarboxylase ◽  
History Of ◽  
First Year Of Life ◽  
Decarboxylase Deficiency

AbstractAromatic L-amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive inborn error of metabolism in which several neurotransmitters including serotonin, dopamine, norepinephrine and epinephrine are deficient. Symptoms typically appear in the first year of life and include oculogyric crises and dystonia, hypotonia, and global developmental delay. Dystonia is of particular concern as a dystonic storm can ensue leading to rhabdomyolysis. Rhabdomyolysis can become life-threating and therefore its recognition and prompt management is of significant importance. Here we present two cases of patients with AADC deficiency and a history of dystonic crisis causing rhabdomyolysis. We hypothesize that in addition to the hypodopaminergic, a hypercholinergic state is contributing to the pathophysiology of dystonia in AADC deficiency, as well as to the associated rhabdomyolysis. We were able to prevent rhabdomyolysis in both patients with using Dantrolene and we suggest using a trial of this medication in cases of sustained dystonic crisis in AADC deficiency patients.

scholarly journals Combined Amino Acid Positron Emission Tomography and Advanced Magnetic Resonance Imaging in Glioma Patients

Cancers ◽  
2019 ◽  
Vol 11 (2) ◽  
pp. 153 ◽  
Author(s):  
Philipp Lohmann ◽  
Jan-Michael Werner ◽  
N. Shah ◽  
Gereon Fink ◽  
Karl-Josef Langen ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Positron Emission Tomography ◽  
Amino Acid ◽  
Magnetic Resonance ◽  
Emission Tomography ◽  
Chemical Exchange Saturation Transfer ◽  
Resonance Imaging ◽  
Methodological Innovation ◽  
Positron Emission ◽  
Amino Acid Pet

Imaging techniques such as positron emission tomography (PET) and magnetic resonance imaging (MRI) provide valuable information about brain tumor patients. Particularly amino acid PET, advanced MRI techniques, and combinations thereof are of great interest for the non-invasive assessment of biological characteristics in patients with primary or secondary brain cancer. A methodological innovation that potentially advances research in patients with brain tumors is the increasing availability of hybrid PET/MRI systems, which enables the simultaneous acquisition of both imaging modalities. Furthermore, the advent of ultra-high field MRI scanners operating at magnetic field strengths of 7 T or more will allow further development of metabolic MR imaging at higher resolution. This review focuses on the combination of amino acid PET with MR spectroscopic imaging, perfusion- and diffusion-weighted imaging, as well as chemical exchange saturation transfer in patients with high-grade gliomas, especially glioblastomas.

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