Autoantibodies against Aromatic L-Amino Acid Decarboxylase in Autoimmune Polyendocrine Syndrome Type I

1997 ◽  
Vol 82 (1) ◽  
pp. 147-150 ◽  
Author(s):  
E. S. Husebye
Keyword(s):  
Amino Acid ◽  
Acid Decarboxylase ◽  
Type I ◽  
Syndrome Type ◽  
Amino Acid Decarboxylase ◽  
Autoimmune Polyendocrine Syndrome

scholarly journals Cytochrome P450IA2 and aromatic l -amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type I

FEBS Letters ◽  
1997 ◽  
Vol 412 (3) ◽  
pp. 439-445 ◽  
Author(s):  
G Gebre-Medhin ◽  
E.S Husebye ◽  
J Gustafsson ◽  
O Winqvist ◽  
A Goksøyr ◽  
...  
Keyword(s):  
Amino Acid ◽  
Acid Decarboxylase ◽  
Type I ◽  
Syndrome Type ◽  
Amino Acid Decarboxylase ◽  
Autoimmune Polyendocrine Syndrome

scholarly journals Autoantibodies against Aromatic l-Amino Acid Decarboxylase Identifies a Subgroup of Patients with Addison’s Disease1

2000 ◽  
Vol 85 (1) ◽  
pp. 460-463
Author(s):  
Annika Söderbergh ◽  
Fredrik Rorsman ◽  
Maria Halonen ◽  
Olov Ekwall ◽  
Petra Björses ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Amino Acid ◽  
Addison’S Disease ◽  
Dependent Diabetes Mellitus ◽  
Premature Menopause ◽  
Acid Decarboxylase ◽  
Addison's Disease ◽  
Type I ◽  
Amino Acid Decarboxylase ◽  
Autoimmune Polyendocrine Syndrome

Autoantibodies against aromatic l-amino acid decarboxylase (AADC) are present in about 50 percent of sera from patients with autoimmune polyendocrine syndrome type I (APS I) but absent in sera from patients with different organ-specific autoimmune diseases, such as insulin-dependent diabetes mellitus, Hashimoto’s thyroiditis, and Graves’ disease. AADC is expressed in the pancreatic β-cells, the liver, and the nervous system; and the presence of AADC antibodies has been shown to correlate to hepatitis and vitiligo in APS I patients. Among 101 investigated patients with autoimmune Addison’s disease, 15 had high titers of AADC antibodies. According to the clinical characteristics of these patients, only 3 had APS I. The remaining 12 had either isolated Addison’s disease or associated diabetes mellitus, hypothyroidism, vitiligo, alopecia, gonadal failure, and pernicious anemia. Autoantibodies against 21-hydroxylase were present in 9 of 12, whereas autoantibodies against side-chain cleavage enzyme and 17α-hydroxylase were present in 3 of 12. Two patients had only autoantibodies against AADC. DNA was available from 3 of these 12 patients. One of the patients, a woman with Addison’s disease, autoimmune thyroiditis, and premature menopause was heterozygous for a point mutation (G1021A, Val301Met) in the first plant homeodomain zinc finger domain of the autoimmune regulator (AIRE) gene. The presence of AADC autoantibodies identifies patients with APS I and a subgroup of Addison patients who may have a milder atypical form of APS I or represent a distinct entity. Measurement of autoantibodies against AADC should be included in the evaluation of Addison’s disease.

scholarly journals Autoantibodies against Aromaticl-Amino Acid Decarboxylase in Autoimmune Polyendocrine Syndrome Type I1

1997 ◽  
Vol 82 (1) ◽  
pp. 147-150 ◽  
Author(s):  
Eystein S. Husebye ◽  
Gennet Gebre-Medhin ◽  
Tiinamaija Tuomi ◽  
Jaakko Perheentupa ◽  
Mona Landin-Olsson ◽  
...  
Keyword(s):  
Amino Acid ◽  
Acid Decarboxylase ◽  
Syndrome Type ◽  
Amino Acid Decarboxylase ◽  
Autoimmune Polyendocrine Syndrome

scholarly journals Autoantibodies to human tryptophan hydroxylase and aromatic L-amino acid decarboxylase

2004 ◽  
pp. 313-321 ◽  
Author(s):  
C Dal Pra ◽  
S Chen ◽  
C Betterle ◽  
R Zanchetta ◽  
V McGrath ◽  
...  
Keyword(s):  
Amino Acid ◽  
Autoimmune Diseases ◽  
Coeliac Disease ◽  
Tryptophan Hydroxylase ◽  
Acid Decarboxylase ◽  
Type I ◽  
Type Ii ◽  
Autoimmune Thyroid ◽  
Amino Acid Decarboxylase

OBJECTIVE: To assess the prevalence of autoantibodies (Abs) to tryptophan hydroxylase (TPH) and aromatic l-amino acid decarboxylase (AADC) in patients with different autoimmune diseases and to analyse their respective epitopes. DESIGN: TPH and AADC Abs were measured in an immunoprecipitation assay using (35)S-labelled full-length and fragments of TPH and AADC. METHODS: Patients with different autoimmune adrenal diseases (n=84), non-adrenal autoimmune diseases (n=37), idiopathic vitiligo (n=8) and 56 healthy blood donors were studied. RESULTS: Fourteen of twenty-three (61%) of patients with autoimmune polyglandular syndrome (APS) type I and 1/34 (3%) of patients with isolated Addison's disease (AD) were positive for TPH Abs. None of the patients with APS type II (n=27), coeliac disease (n=10), autoimmune thyroid disease (AITD) (n=11), type 1 diabetes mellitus (DM) (n=16) or idiopathic vitiligo (n=8) was positive for TPH Abs. AADC Abs were detected in 12/23 (52%) patients with APS type I, in 1/29 (3%) patients with APS type II and 1/34 (3%) patients with isolated AD. None of the patients with coeliac disease, type 1 DM, AITD or idiopathic vitiligo was positive for AADC Abs. TPH Abs were found to interact with the C-terminal amino acids (aa) 308-423, central aa 164-205 and N-terminal aa 1-105 of the TPH molecule. AADC Ab binding epitopes were within the C-terminal aa 382-483, the central aa 243-381 and the N-terminal aa 1-167. CONCLUSIONS: Our study suggests that TPH Abs and AADC Abs react with several different epitopes and that different epitopes are recognized by different sera. The prevalence of TPH Abs and AADC Abs in patients with APS type I in our study is in agreement with previous reports. TPH Abs and AADC Abs were found very rarely in patients with other forms of autoimmune adrenal disease and were not detected in patients with non-adrenal autoimmune diseases.

scholarly journals Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Carlo Fusco ◽  
◽  
Vincenzo Leuzzi ◽  
Pasquale Striano ◽  
Roberta Battini ◽  
...  
Keyword(s):  
Amino Acid ◽  
Diagnostic Delay ◽  
Steering Committee ◽  
Outcome Data ◽  
Diagnosis And Treatment ◽  
Acid Decarboxylase ◽  
Delphi Consensus ◽  
Amino Acid Decarboxylase ◽  
Modified Delphi ◽  
Number Of Patients

Abstract Background Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neurometabolic disorder resulting in a complex neurological and non-neurological phenotype, posing diagnostic challenges resulting in diagnostic delay. Due to the low number of patients, gathering high-quality scientific evidence on diagnosis and treatment is difficult. Additionally, based on the estimated prevalence, the number of undiagnosed patients is likely to be high. Methods Italian experts in AADC deficiency formed a steering committee to engage clinicians in a modified Delphi consensus to promote discussion, and support research, dissemination and awareness on this disorder. Five experts in the field elaborated six main topics, each subdivided into 4 statements and invited 13 clinicians to give their anonymous feedback. Results 100% of the statements were answered and a consensus was reached at the first round. This enabled the steering committee to acknowledge high rates of agreement between experts on clinical presentation, phenotypes, diagnostic work-up and treatment strategies. A research gap was identified in the lack of standardized cognitive and motor outcome data. The need for setting up an Italian working group and a patients’ association, together with the dissemination of knowledge inside and outside scientific societies in multiple medical disciplines were recognized as critical lines of intervention. Conclusions The panel expressed consensus with high rates of agreement on a series of statements paving the way to disseminate clear messages concerning disease presentation, diagnosis and treatment and strategic interventions to disseminate knowledge at different levels. Future lines of research were also identified.

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