Hyperleucinemia is an excessive amount of leucine in the blood. Several metabolic disorders are associated with hyperleucinemia caused by a defect in the leucine metabolism pathway: Maple Syrup Urine Disease (MSUD), isovaleric acidemia (IVA), 3-methylcrotonyl-CoA carboxylase (3MCCC) deficiency, 3-methylglutaconic aciduria (3MG1), and 3-hydroxy-3-methylglutaric acidemia (HMGCL deficiency).
Maple Syrup Urine Disease is a branched-chain amino acid disorder which causes the accumulation of leucine, valine and isoleucine. The metabolic disruptions arising from untreated MSUD lead to encephalopathy and cerebral edema. These effects are specifically associated with the accumulation of leucine. Acute episodes of hyperleucinemia in MSUD patients require strict control of blood leucine levels to prevent neurological sequelae. The Comidamed portfolio offers a specific product line for the dietary treatment of MSUD: comida-MSUD.
Isovaleric academia, one of the “classical” organic acidemias, can be presented with a severe neonatal-onset form with acute metabolic decompensation and neurological distress, an acute, intermittent, late-onset form or chronic progressive form presenting as hypotonia, failure to thrive, and developmental delay. Affected patients may have “the sweaty feet” odor.
Patients with 3-methylcrotonyl-CoA carboxylase deficiency often have acute episodes of vomiting, hypotonia, seizures, and coma, accompanied by an “acid” odor.
3-methylglutaconic aciduria is a rare metabolic disorder with a wide spectrum of clinical symptoms. There are four types of this condition. Patients with type I may have varying symptoms, from none to severe neurological impairment or acute acidosis. Types II, III, and IV do not involve defects in the leucine pathway.
Patients with 3-hydroxy-3-methylglutaric acidemia most often present with neonatal hypoketotic hypoglycemia and acidosis. Both mild and severe clinical forms of the disorder have been reported.
The goal of nutritional management of leucine metabolism disorders is to reduce plasma leucine to the upper limit of normal. A diet employing special medical formulas devoid of leucine and low-protein foods is a most effective strategy to control the disorders.
comida-Leu are amino acid mixtures free from leucine, supplemented with vitamins, minerals and trace elements ensuring an optimal nutritional quality for different age groups.
