She became pale and sweaty with hypothermia (33.5 C), bradycardia (45 bpm), and acidosis and presented a generalized seizure. [ncbi.nlm.nih.gov]

• Poor Feeding

  It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive. [uniprot.org]

  It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. [mybiosource.com]

• Fatigue

  […] major depression. [1] 5-HTP is also popularly consumed by users of MDMA and other serotonin-releasing agents to try to reduce the negative after effects that begin during the substance's come down period, including anxiety, depression, and cognitive fatigue [psychonautwiki.org]

  Functions Lysine can be a treatment of Herpes Simplex and virus-associated Chronic Fatigue Syndrome as it inhibits viral growth. [en.wikibooks.org]

  Prolonged exercise or fatigue may set off or worsen symptoms. In some cases, the symptoms may become worse or more pronounced in the afternoon and evening than in the morning (diurnal fluctuation). [rarediseases.org]

• Pleural Effusion

  At the age of 15 years he had an episode of pneumonia associated with a pleural effusion, which was by far the most severe since his gastrostomy and fundoplication. [hkmj.org]

• Aspiration

  At the age of 5 years, he started having chronic watery diarrhoea, which occurred after each episode of aspiration pneumonia with respiratory failure. [hkmj.org]

• Chronic Diarrhea

  A 5-year-old girl with a medical history of chronic diarrhea presented three episodes of severe hypoglycemia (20 mg/dL) between ages 3 and 5 years. [ncbi.nlm.nih.gov]

• Hypotension

  This report presents the case of an adult male with aromatic L-amino acid decarboxylase deficiency who developed serious cardiac rhythm disturbances during treatment with intravenous dopamine and norepinephrine for severe hypotension. [ncbi.nlm.nih.gov]

  When he was 11 years old, there was an episode of protracted hypotension with bradycardia (for 5 hours), which followed sedation (with diazepam 0.1 mg/kg) for an oesophagogastroduodenoscopy. [hkmj.org]

  Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension [ghr.nlm.nih.gov]

  Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Answers T Wassenberg, M Willemsen, H Dijkman, J Deinum, L Monnens Pediatric Nephrology 32 (7), 1171-1174, 2017 2017 the explanation for urinary dopamine excretion [scholar.google.it]

  Orthostatic hypotension and Holmes-Adie syndrome. Usefulness of the Valsalva ratio in the evaluation of baroreceptor dysfunction. J Hum Hypertens. 2002 Sep. 16(9):661-2. [Medline]. [emedicine.medscape.com]

• Small Hand

  In addition, we observed that all patients (100.0%) had small hands and feet. [ncbi.nlm.nih.gov]

• Psychomotor Retardation

  These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since early infancy. [ncbi.nlm.nih.gov]

• Irritability

  Our male patient presented with developmental delay, extreme hypotonia, oculogyric crises, and irritability. [ncbi.nlm.nih.gov]

  Clinical Presentation: symptoms may include temperature instability, ptosis of the eyelids, hypersalivation, distal chorea, swallowing difficulties, drowsiness, irritability, truncal hypotonia, oculogyric crises, pinpoint pupils. [ndrf.org]

  Usually they begin in the afternoon and are characterized by increased irritability, crying, abnormal eye movements, stiffness withabnormal posturing and stridor (rattled breathing). [pndassoc.org]

• Hyperreflexia

  Of those patients who present at the average age with the typical dystonic gait disorder, 20% also have hyperreflexia and apparent extensor plantar responses, as well as other clinical features suggesting spasticity. [jn.nutrition.org]

  Association of autonomic nervous hyperreflexia and systemic inflammation in patients with Crohn's disease and ulcerative colitis. J Neuroimmunol. 1997 Dec. 80(1-2):149-57. [Medline]. [emedicine.medscape.com]

• Generalized Seizure

  She became pale and sweaty with hypothermia (33.5 C), bradycardia (45 bpm), and acidosis and presented a generalized seizure. [ncbi.nlm.nih.gov]

  seizures Children with AADC are often initially diagnosed with Seizure Disorder, Cerebral Palsy, Congenital Myasthenia and Mitochondrial Disorder. [pndassoc.org]

• Babinski Sign

  When the neurotransmitters are not being produced correctly, there are problems with the nervous system. 0000271 Autosomal recessive inheritance 0000007 Babinski sign 0003487 Choreoathetosis 0001266 Constipation 0002019 Decreased CSF homovanillic acid [rarediseases.info.nih.gov]

Metabolic workup, including thyroid function tests, and determination of ammonia, lactate, and glucose levels and urine amino acids screening yielded nil abnormal. [hkmj.org]

• Fasting Hypoglycemia

  OBJECTIVE/CONTEXT: Long-fasting hypoglycemia in children may be induced by neurotransmitter disorders. [ncbi.nlm.nih.gov]

• Pleural Effusion

  At the age of 15 years he had an episode of pneumonia associated with a pleural effusion, which was by far the most severe since his gastrostomy and fundoplication. [hkmj.org]

Treatment response was variable. Two groups of patients were detected: Group I (five males) responded to treatment and made developmental progress. [ncbi.nlm.nih.gov]

Treatment options are limited, in many cases not beneficial, and prognosis is uncertain. [ncbi.nlm.nih.gov]

April 13, 2004 ; 62 (7) Views & Reviews Clinical features, treatment, and prognosis R. Pons, B. Ford, C. A. Chiriboga, P. T. Clayton, V. Hinton, K. Hyland, R. Sharma, D. C. [n.neurology.org]

During the 17-hour fast test performed to determine the etiology of her hypoglycemia, insulin and C-peptide were appropriately low, and human GH, IGF-I, cortisol, amino acids, and acylcarnitines were in the usual range for fasting duration. [ncbi.nlm.nih.gov]

To provide a basis for improving the understanding of the epidemiology, genotype–phenotype correlation and outcome of these diseases their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry [en.wikipedia.org]

This review article illustrates the pathophysiology, diagnostic methods, and therapeutic strategies for patients with AADC deficiency. [dovepress.com]

[…] trafficking/metabolism may be compromised in AADC deficiency. 5-HTP was demonstrated to potentially be mildly toxic to human neuroblastoma cells but not astrocytoma cells; however the concentrations required for this response are likely to be higher than pathophysiological [discovery.ucl.ac.uk]

OBJECTIVES: To develop a diagnostic platform for preimplantation genetic diagnosis (PGD) and prenatal genetic diagnosis (PND) to prevent births of aromatic L-amino acid decarboxylase deficiency (AADC) patients. [ncbi.nlm.nih.gov]

Prevention - Aromatic amino acid decarboxylase deficiency Not supplied. Diagnosis - Aromatic amino acid decarboxylase deficiency Genetic Testing Registry Prognosis - Aromatic amino acid decarboxylase deficiency Not supplied. [checkorphan.org]

However inhibiting AADC prevented the GSH increase induced by L-dopa. Furthermore dopamine but not L-dopa, increased GSH release from human astrocytoma cells, which do not express AADC activity. [discovery.ucl.ac.uk]

[…] accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 6 October 2016 recommending the granting of this designation. the seriousness of the condition; the existence of alternative methods of diagnosis, prevention [ema.europa.eu]

However DDC inhibitors can be used to prevent premature L-DOPA metabolism in the blood, and thereby both increase efficacy and reduce side effects (Burkhard et al., 2001). [novusbio.com]