Maple Syrup Urine Disease Induced Grand Mal Seizures: A Case Report

نویسندگان

Balraj Guhan Department of Paediatrics, KMCT Woman and Child Hospital, Calicut, Kerala, India.

Gautam Satheesh Department of Pharmacy Practice, National College of Pharmacy, Calicut, Kerala, India.

Niyas Ahammed Department of Paediatrics, KMCT Woman and Child Hospital, Calicut, Kerala, India.

Suja Johnson Department of Pharmacy Practice, National College of Pharmacy, Calicut, Kerala, India.

چکیده مقاله:

Background Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive metabolic error, characterized by Branched Chain α-Keto-acid Dehydrogenase Complex (BCKDC) deficiency. Mutations in 3 genes can lead to abnormal metabolism and accumulation of leucine, isoleucine, valine and corresponding keto-acids. MSUD affects 1 in 185,000 infants globally. Seizure is a common presentation among neonates. However, in intermediate MSUD, seizures have a delayed and insidious onset, along with developmental Case Report We report a case of grand mal seizures in a patient with intermediate MSUD, presenting with multiple episodes of seizure, dystonia, spastic quadriplegia, involuntary micturition and oculogyric crisis.Seizures were managed successfully with intravenous lorazepam and other supportive measures. The patient was advised to strictly adhere to branched chain amino acid restricted diet. Conclusion This case report emphasizes on the importance of medication adherence and dietary restrictions to prevent permanent psychomotor damage or death.

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منابع مشابه

Maple syrup urine disease--a case report.

Maple syrup urine disease is a rare autosomal recessive inborn error of metabolism of branch chain amino acids the condition is named because of distinctive sweet odour of affected infants urine. MSUD is caused by deficiency of branch chain alpha keto acid dehydrogenase enzyme complex, leading to accumulation of the branch chain amino acids (leucine, isoleucine, valine) and their toxic by produ...

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Maple syrup urine disease

Maple syrup urine disease (MSUD) is an autosomal recessive condition with an incidence of approximately 1 in 150 000 live births with a higher incidence amongst children from consanguineous relationships [1]. It is caused by an enzymatic deficiency with reduction in oxidative decarboxylation of branched-chain amino acids (BCAA) (leucine, isoleucine and valine) resulting in elevated levels and t...

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Maple Syrup Urine Disease

Alternative Names MSUD Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency BCKD Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Classic Maple Syrup Urine Disease, Intermediate Maple Syrup Urine Disease, Intermittent Maple Syrup Urine Disease, Thiamine-Responsive Maple Syrup Urine Disease, E3-Deficient, with Lactic Acidosis Maple Syrup Uri...

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[Maple syrup urine disease].

Branched chain a-ketoacid dehydrogenase (BCKDH) deficiency results in maple syrup urine disease (MSUD). We examined the molecular basis of familial cases ofMSUD by analyzing the activity, subunit structure, mRNA sequence, and genome structure of the affected enzyme. The BCKDH activity in the proband with MSUD was 6% ofthe normal control level. Immunoblot analysis revealed that the ElB subunit o...

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