Signs and symptoms
Signs and symptoms of familial dysautonomia usually commence during infancy and worsen with age, and may include: gastrointestinal dysmotility (including erratic gastric emptying, gastroesophageal reflux, abnormal esophageal peristalsis, oropharyngeal incoordination), dysphagia (as poor suckling in infancy) and frequent choking/gagging, recurrent vomiting, poor weight gain/growth, delayed development (especially walking) and puberty (especially in girls), recurrent aspiration pneumonia (due to inhalation of food or vomitus) with possible secondary chronic lung disease, absence of overflow tears during crying, corneal ulcers, red skin blotches and excessive sweating (often during eating or excitement), breath-holding spells, slurred speech/nasal voice, tongue ulcers (from accidental self-injuries), hyporeflexia (variable absence of deep tendon reflexes), hypotonia, enuresis, arrhythmias, hypertension (including episodic hypertension in response to emotional stress or visceral pain), hypotension (including orthostatic hypertension with compensatory tachycardia (invariably present)), impaired (but not absent) temperature and pain perception (leading to frequent accidental injury), impaired proprioception, a smooth glossy tongue, scoliosis (with possibly secondary restrictive lung disease), abnormal gait, short stature, chronic renal failure (common), visual impairment, variable cognitive ability, characteristic facial features that develop with time, impaired vibration perception, lack of fungiform papilla of the tongue, and impaired taste perception (especially for sweetness). Autonomic crises - In children with FD, recurrent episodes of vomiting may occur. Such episodes may be triggered by physical (e.g. infection) or emotional stress, may occur every 15–20 minutes for over 24 hours, and may be accompanied with: significant hypertension, drenching sweat, breathing issues, fever, tachycardia, aspiration pneumonia, skin blotches, drooling, and negative personality change.
"AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes". Haematologica. 106 (1): 238–249. doi:10.3324/haematol.2019.238865. PMC 7776327. PMID 31974203. External links
"Mitapivat sulfate". Drug Information Portal. U.S. National Library of Medicine. Clinical trial number NCT03548220 for "A Study to Evaluate Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)" at ClinicalTrials.gov
Clinical trial number NCT03559699 for "A Study Evaluating the Efficacy and Safety of AG-348 in Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)" at ClinicalTrials.gov