ABSTRACT
Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme. Improper degeneration of amino acids: tryptophan, lysine, and hydroxylysine, results in increased levels of glutaric acid, which typically becomes clinically manifest as an acute dystonic crisis in young children. Accumulation of glutaric acid causes neurotoxicity in the basal ganglia and fronto-temporal cortex which can lead to progressive dystonia, hypotonia, permanently impaired speech and seizures. Because dietary and drug therapy may alter the natural history of the disease, early diagnosis of such patients is critical. We report the magnetic resonance (MR) imaging findings in a 16 year-old girl with this disorder who presented with a chronic dystonic syndrome and previously diagnosed of brain paralysis. MR imaging demonstrated bilateral involvement of the putamina and periventricular white matter, and bilateral temporal atrophy and widened Silvian fissures.
Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnostic imaging , Brain/diagnostic imaging , Dysarthria/diagnostic imaging , Dystonic Disorders/diagnostic imaging , Glutaryl-CoA Dehydrogenase/deficiency , Mitochondrial Diseases/diagnostic imaging , Adolescent , Amino Acid Metabolism, Inborn Errors/diet therapy , Amino Acid Metabolism, Inborn Errors/genetics , Amino Acid Metabolism, Inborn Errors/urine , Dysarthria/diet therapy , Dysarthria/genetics , Dysarthria/urine , Dystonic Disorders/diet therapy , Dystonic Disorders/genetics , Dystonic Disorders/urine , Female , Glutarates/urine , Humans , Learning Disabilities/diagnostic imaging , Learning Disabilities/diet therapy , Learning Disabilities/genetics , Learning Disabilities/urine , Magnetic Resonance Imaging , Mitochondrial Diseases/diet therapy , Mitochondrial Diseases/genetics , Mitochondrial Diseases/urine , Putamen/diagnostic imaging , Radiography , Temporal Lobe/diagnostic imagingABSTRACT
Therapy of chronic hepatic encephalopathy is often frustrating, limited as it is by the ability to adequately nourish such patients. Protein is needed for repair, but such patients are intolerant of protein. Previous work from this and other laboratories has suggested that the distorted plasma amino acid pattern may be causally related to hepatic encephalopathy. A single, well-studied, long-term patient received therapy with a branched-chain amino-acid-enriched elemental diet that not only enabled adequate nutrition with protein but resulted in improvement in hepatic function as well as reversal of some aspects of hepatic encephalopathy that heretofore have been deemed irreversible. The results confirm that branched-chain-enriched amino acid diets previously successful in the intravenous mode may be successfully used in chronic long-term support of patients with protein intolerance, with improvement in hepatic function secondary to improvement in nutrition.
