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Factors Associated With An Autosomal Recessive Hereditary Metabolic Disorder

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Discussion:
MSUD is a disorder of BCAAs metabolism with a frequency of 1/185,000 live newborns all over the world, while incidence is quite high in Eastern part Pennsylvania as high as 1 in 200(1). It is an autosomal recessive hereditary metabolic disorder is due to defective oxidative decarboxylation of the branched-chain alphaketoacids (BCKAs) derived from transamination of the the BCAAs, valine, leucine and isoleucine. The oxidative decarboxylation of this BCKAs is catalyzed by the branched-chain alphaketoacid dehydrogenase (BCKDH) complex(2). These mutations sub classifies MSUD in MSUD type 1 or MSUD type 2.Traditionally, the metabolic phenotype of MSUD is described classic or intermediate variety on related residual BCKAD enzyme
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Because significant proximal tubular reabsorption of filtered BCAAs, renal clearance of filtered BCAAs very is limited and treatment of symptomatic patients with MSUD aimed on reducing plasma BCAA levels either by incorporation into new protein synthesis or by enhancing removal from the intravascular space. Several treatment modalities including special nutritional regimens, exchange transfusions, peritoneal dialysis, and continuous hemofiltration have been utilized in neonates with MSUD. All this modalities has varying success in reducing systemic BCAA levels(6). MSUD is very rare in most populations worldwide, published reports of diagnosis and treatment of MSUD usually involve only a few patients and most have focused on management of the acute illness. As a result, reaching an agreement about various management issues has been difficult. In our case we found continuous veno- venous hemodialysis with filtration (CVVHDF) as an effective treatment modalities which has been described in earlier(7)(8)(9), as leucine level reduced to 20 % after 6 hours of treatment.
Acute metabolic crisis in MSUD treated effectively with use
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