![]() ![]() Normally, our bodies break down protein foods such as meat and fish into amino acids. It means the body cannot process certain amino acids (the 'building blocks' of protein), causing a harmful build-up of substances in the blood and urine. The possible underlying mechanism of this neuropsychological profile is discussed in relation to other neurodevelopmental models. Maple syrup urine disease (MSUD), also known as branched-chain ketoaciduria (BCK), is an autosomal recessive inherited metabolic disorder (IMD). Maple syrup urine disease (MSUD) is a rare but serious inherited condition. This case demonstrates neurocognitive deficiencies within the context of normal magnetic resonance imaging. The patient also showed reduced adaptive functioning and mild anxiety. Neuroimaging revealed no structural abnormalities, while the results from the neuropsychological evaluation showed impairment in visual-spatial processing, attention, executive functioning, and psychomotor abilities, with relative strengths in verbal skills. In the present paper, we report an adult case of MSUD with associated neurocognitive deficits and functional limitations following liver transplantation. ![]() Even with successful management of MSUD there is evidence from pediatric cases that shows a distinct pattern of neurocognitive deficits associated with this condition, including impaired nonverbal skills and psychomotor functioning with relatively intact verbal abilities. Biallelic variants in one of these genes result in branched-chain alpha-ketoacid dehydrogenase complex (BCKDC) deficiency and thus elevated leucine, valine, isoleucine and. Methods: Family histories and molecular testing for the Y393N mutation of the E1alpha subunit of the branched-chain alpha-ketoacid dehydrogenase allow us to identify infants who were at high risk for MSD. Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes including BCKDHA (MIM 608348), BCKDHB (MIM 248611), and DBT (MIM 248610). Acute and long-term management of MSUD involves a restricted diet and regular monitoring of amino acid levels however, more recently liver transplants have been shown to be successful in treating this condition. Objective: To evaluate an approach to the diagnosis and treatment of maple syrup disease (MSD). Maple syrup urine disease (MSUD) is a rare hereditary metabolic condition where the body is unable to breakdown amino acids causing toxic buildup. ![]()
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