Maple Syrup Urine Disease

Chuang, David T.; Wynn, R. Max; Cox, Rody P.; Chuang, Jacinta L.

doi:10.1016/b978-0-12-410529-4.00059-0

Cited by 2 publications

(1 citation statement)

References 63 publications

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“…Maple syrup urine disease (MSUD) (leucine encephalopathy) [7] is a genetic disorder caused by a genetic deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKDH), which catalyzes the decarboxylation of alpha-keto acids derived from the metabolism of branched-chain amino acids (BCAA). It may present as acute encephalopathy in the neonatal period and occur before the results of neonatal mass screening become available.…”

Section: Amino Acid Metabolism Disordersmentioning

confidence: 99%

Acute Encephalopathy Caused by Inherited Metabolic Diseases

Sugiyama

Murayama

2023

JCM

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Acute encephalopathy is a critical medical condition that typically affects previouslyhealthy children and young adults and often results in death or severe neurological sequelae. Inherited metabolic diseases that can cause acute encephalopathy include urea cycle disorders, amino acid metabolism disorders, organic acid metabolism disorders, fatty acid metabolism disorders, mutations in the thiamine-transporter gene, and mitochondrial diseases. Although each inherited metabolic disease is rare, its overall incidence is reported as 1 in 800–2500 patients. This narrative review presents the common inherited metabolic diseases that cause acute encephalopathy. Since diagnosing inherited metabolic diseases requires specific testing, early metabolic/metanolic screening tests are required when an inherited metabolic disease is suspected. We also describe the symptoms and history associated with suspected inherited metabolic diseases, the various tests that should be conducted in case of suspicion, and treatment according to the disease group. Recent advancements made in the understanding of some of the inherited metabolic diseases that cause acute encephalopathy are also highlighted. Acute encephalopathy due to inherited metabolic diseases can have numerous different causes, and recognition of the possibility of an inherited metabolic disease as early as possible, obtaining appropriate specimens, and proceeding with testing and treatment in parallel are crucial in the management of these diseases.

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Section: Amino Acid Metabolism Disordersmentioning

confidence: 99%

Acute Encephalopathy Caused by Inherited Metabolic Diseases

Sugiyama

Murayama

2023

JCM

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Maple Syrup Urine Disease and Medical Nutrition Therapy

Muslu

Kok

2021

Cumhuriyet Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi

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Akçaağaç şurubu idrar hastalığı, dallı zincirli α-ketoasit dehidrojenaz enzim kompleksinin olmaması veya yeterli üretilememesi sonucu dallı zincirli amino asitler ve metabolitlerinin birikmesiyle ortaya çıkan otozomal resesif geçişli nadir görülen bir hastalıktır. Hastalığın farklı fenotip özellik gösteren türleri bulunmaktadır. Hafif belirtilerden koma ve ölüme kadar gidebilen geniş bir aralıkta bulgular gösterebilmektedir. Hastalığın tedavisinde lösin, izolösin ve valinden kısıtlı ömür boyu süren diyet uygulanmaktadır. Diyet tedavisinde amaç büyüme ve gelişmeyi sağlarken özellikle lösin yükselmesiyle oluşabilecek nörotoksik etkiyi engellemektir. Hastanın ihtiyaçlarına uygun olacak şekilde enerji ve makro besin ögeleri hesaplanarak aynı zamanda kanda toksik etki göstermeyecek kadar da lösin, izolösin ve valin içeren diyet planlanmaktadır. Yüksek protein içeren birçok besinde lösin, izolösin ve valin bulunduğundan dolayı özel hazırlanmış lösin, izolösin ve valin içermeyen formulalar, düşük lösin içerikli besinler, yağlar, şeker ve nişasta beslenme tedavisinde kullanılmaktadır. Hastaların farklı yaşlarda, gebelik gibi özel durumlarda veya katabolik süreçlerde ihtiyaçları değişebilmektedir. Bu çalışmada akçaağaç şurubu idrar hastalığı hastaları için uygulanan tıbbi beslenme tedavisi önerileri incelenmiştir..

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Maple Syrup Urine Disease

Cited by 2 publications

References 63 publications

Acute Encephalopathy Caused by Inherited Metabolic Diseases

Acute Encephalopathy Caused by Inherited Metabolic Diseases

Maple Syrup Urine Disease and Medical Nutrition Therapy

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