Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

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Annotation Summary

Term Occurence Count Dictionary
hypoglycemia 5 endocrinologydiseases
leukodystrophy 1 endocrinologydiseases
bromocriptine 4 endocrinologydiseasesdrugs
cabergoline 3 endocrinologydiseasesdrugs
folate deficiency 2 endocrinologydiseases

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Select Drug Character Offset Drug Term Instance
bromocriptine 37127 [[60]], and should not be used in AADCD. Ergot-derived dopamine agonists without 5HT2b agonist action ( bromocriptine ) have a lower risk, although incidentally, pulmonary, retroperitoneal and (peri)cardial fibrosis have
bromocriptine 37606 probably very low [[62]].Use of dopamine agonists in AADCD was described in 58 individual cases, with bromocriptine being used most often (26 patients), followed by pergolide (11 patients). Reports on non-ergot derived
bromocriptine 38136 control, hypotonia, oculogyric crises, voluntary movements and autonomic symptoms) have been reported for bromocriptine , pramipexole, rotigotine patches and pergolide. Also, neutral effects were reported. Reported side effects
bromocriptine 39051 of fibrotic complications.R#28 (GPP): Cardiac screening (see R#48) before and during treatment with bromocriptine (ergot derived dopamine-agonists) is indicated, because of the potential risk of cardiac fibrosis.MAO
cabergoline 36929 directly. Ergot-derived dopamine agonists with strong serotonergic (5HT2b) agonist action (pergolide and cabergoline ) are strongly associated with cardiac valvulopathy and other fibrous complications [[60]], and should
cabergoline 37834 agonists were fewer (4 patients on pramipexole, 4 on rotigotine, and 2 on ropinirole). One patient on cabergoline was described. In 9 patients the dopamine agonist was not specified. There are no reports of the use
cabergoline 51422 with higher dose, dose restricted to 30 mg/d in adults. Maintain lowest effective dose.Pergolide or cabergoline Ergot-derivedNoneDo not use because of higher risk of fibrotic complicationsMAO-inhibitorsSelegilineMAO-B
Select Disease Character Offset Disease Term Instance
folate deficiency 46568 levels should be determined before and during L-Dopa therapy.Folinic acidIn theory, secondary cerebral folate deficiency may develop in AADCD since O-methylation of the excessive amounts of L-Dopa to 3-OMD depletes methyl
folate deficiency 47841 unexpected clinical deterioration, measurements of CSF 5-MTHF should be considered to rule out secondary folate deficiency .5-Hydroxytryptophan5-HTP is the substrate for AADC to form serotonin, and its use in AADCD is as counterintuitive
hypoglycemia 19285 (expert experience). Failure to thrive and short stature is often reported. In 13 patients, intermittent hypoglycemia was reported, at birth or in the first five years of life. Hypoglycemia can occur during intercurrent
hypoglycemia 19434 first five years of life. Hypoglycemia can occur during intercurrent illnesses [[41]]. In one patient, hypoglycemia with reduced level of consciousness was found after sedation for MRI [[42]]. There are no reports of
hypoglycemia 20313 Importantly, a mild phenotype can present predominantly with autonomic symptoms (diarrhea, episodic hypoglycemia , nasal congestion) and without evident movement disorders [[18]]. Two adult sisters had a very atypical
hypoglycemia 58830 carefully.In case of nausea and vomiting in AADCD patients, supportive care to avoid dehydration and hypoglycemia is most important. If possible, anti-dopaminergic and anti-serotonergic agents should be avoided. If
hypoglycemia 70325 prepared in patients with AADCD because patients have an increased risk of hemodynamic instability and hypoglycemia . In addition to cardiovascular monitoring, monitoring of temperature and glucose levels during procedures
leukodystrophy 33653 [[4]], degenerative changes of white matter, thinning of corpus callosum, prominent ventricular bodies, leukodystrophy -like patterns, and hypomyelination [[2]]. Since there is no specific MRI pattern, imaging is not helpful

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