Regular monitoring by a healthcare provider is crucial
A number of phenotypic elements should be carefully assessed, including neurological and cognitive symptoms (such as impairment of concentration and short-term memory, perceptual and sensory disturbances, sensory and emotional overload phenomena), autonomic manifestations (such as orthostatic intolerance, palpitations, gastro-intestinal symptoms), neuroendocrine manifestations (such as loss of thermostatic stability, intolerances of extremes of heat and cold, worsening symptoms with stress), and immune manifestations (such as tender lymph nodes, recurrent sore throat or flu-like symptoms, general malaise (flu-like feelings of being ill and feverish)
(1998), California ABC Alcohol Facts, and NIAAA gastric emptying data
5-Oxoprolinase deficiency Disease name 5-Oxoprolinase deficiency (OMIM 260005) Definition and diagnostic criteria 5-Oxoprolinase deficiency is a very rare autosomal recessive disease characterized by 5-oxoprolinuria and very heterogeneous clinical presentation (renal stone formation, enterocolitis, mental retardation, neonatal hypoglycemia, microcytic anemia and microcephaly)
