F. J. Loupatty

Publications17
h-index10
Citations409
Highly Influential Citations23
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Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.
Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the literature, and the molecular basis of this inborn error of valine catabolism has remained unknown… Expand
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3-Methylglutaconic aciduria type I is caused by mutations in AUH.
3-Methylglutaconic aciduria type I is an autosomal recessive disorder clinically characterized by various symptoms ranging from delayed speech development to severe neurological handicap. This… Expand
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Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
Valine is one of the three branched-chain amino acids which undergoes oxidation within mitochondria. In this paper, we describe the current state of knowledge with respect to the enzymology of the… Expand
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NMR spectroscopic studies on the late onset form of 3‐methylglutaconic aciduria type I and other defects in leucine metabolism
A diagnosis of 3‐methylglutaconic aciduria type I (OMIM: 250950) based on elevated urinary excretion of 3‐methylglutaconic acid (3MGA), 3‐methylglutaric acid (3MG) and 3‐hydroxyisovaleric acid… Expand
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Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3-methylglutaconic aciduria
Summary3-Methylglutaconic aciduria is the biochemical marker of several inherited metabolic diseases. Four types of 3-methylglutaconic aciduria can be distinguished. In the type I form, accumulation… Expand
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Can serum L-lactate, D-lactate, creatine kinase and I-FABP be used as diagnostic markers in critically ill patients suspected for bowel ischemia
BackgroundThe prognostic value of biochemical tests in critically ill patients with multiple organ failure and suspected bowel ischemia is unknown.MethodsIn a prospective observational cohort study… Expand
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Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
3-Hydroxyisobutyric aciduria is a rare entity and affected individuals display a range of clinical manifestations including dysmorphic features and neurodevelopmental problems in the majority of… Expand
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Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
In this paper, we describe a distinct clinical subtype of 3-methylglutaconic aciduria. 3-Methylglutaconic aciduria is a group of different metabolic disorders biochemically characterized by increased… Expand
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3-Methylglutaconic aciduria type I redefined
Objective: 3-Methylglutaconic aciduria type I is a rare inborn error of leucine catabolism. It is thought to present in childhood with nonspecific symptoms; it was even speculated to be a nondisease.… Expand
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Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I.
3-Methylglutaconic aciduria (3MGA) type I (McKusick 250950) is biochemically characterized by increased excretion of 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid in… Expand
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