Isovaleric acidemia: a new genetic defect of leucine metabolism.
نویسندگان
چکیده
منابع مشابه
Isovaleric acidemia: a new genetic defect of leucine metabolism.
At present, leucine-induced hypoglycemia and maple-syrup urine disease are the only inborn errors of leucine metabolism recognized in man. In the former disorder, recurrent hypoglycemia is the result of leucine-induced hyperinsulinism.1 In maple-syrup urine disease there is a block in the oxidative decarboxylation of leucine, isoleucine, and valine resulting in the accumulation of the amino aci...
متن کاملIsovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.
Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of derivatives of isovaleryl-CoA. It was the first organic acidemia recognized in humans and can cause significant morbidity and mortality. Early diagnosis and treatment with a protein restricte...
متن کاملAnesthetic management of a patient with isovaleric acidemia.
A 3-year-old male with isovaleric acidemia presented for dental rehabilitation under general anesthesia. In times of stress, such as in the perioperative period, patients with isovaleric acidemia are at greater risk for morbidity and mortality from disordered metabolism, including glucose disturbances, hyperammonemia, hypocalcemia, and non-anion gap metabolic acidosis. Communication between the...
متن کاملDietary practices in isovaleric acidemia: A European survey
BACKGROUND In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. AIM To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). METHODS A cross-sectional questionnaire was sent to all European dietitians who were either memb...
متن کاملIsovaleric Acidemia Presenting as Diabetic Ketoacidosis: A Case Report
Isovaleric acidemia (IVA) is characterized by periodic vomiting, lethargy, coma, ketoacidosis and a 'sweaty feet' odor. Hyperglycemia, ketonemia, ketonuria and metabolic acidosis are the main clinical features of diabetic ketoacidosis (DKA) and these same symptoms can also be seen in acute attacks of metabolic diseases. We report a 2-year-old patient who presented with acute encephalopathy, hyp...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1966
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.56.1.236