نتایج جستجو برای: children methylmalonic acidemia
تعداد نتایج: 465142 فیلتر نتایج به سال:
Dementia, diarrhea, desquamating shellac-like dermatitis revealing late-onset cobalamin C deficiency
MMA: methylmalonic acid CASE REPORT We present a case of late-onset cobalamin C deficiency presenting with a unique shellac-like erosive desquamation and mental status changes that was dramatically responsive to treatment. We discuss cobalamin C deficiency and compare the cutaneous findings with other similar nutritional deficiency states. The brown shellac-like desquamation should prompt derma...
With conventional dietary treatment, the clinical course of methylmalonic acidemia due to cobalamin-unresponsive methylmalonyl-CoA mutase (MCM) deficiency is characterized by the persistent risk of recurrent life-threatening decompensation episodes with metabolic acidosis, hyperammonemia, and coma. Liver transplant has been proposed as an alternative treatment and anecdotally attempted in the l...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید