Results 11 to 20 of about 883 (149)

Insights from Metabolomics Profiling of MSUD in Pediatrics Toward Disease Progression

Metabolites
Background: Maple syrup urine disease (MSUD) is a genetic disorder caused by mutations in the branched-chain α-ketoacid dehydrogenase (BCKDH) complex, leading to toxic buildup of branched-chain amino acids (BCAAs) and their ketoacid derivatives.
Abeer Z. Alotaibi, Reem H. AlMalki, Rajaa Sebaa, Maha Al Mogren, Mohammad Alanazi, Khalid M. Sumaily, Ahmad Alodaib, Ahmed H. Mujamammi, Minnie Jacob, Essa M. Sabi, Ahmad Alfares, Anas M. Abdel Rahman   +11 more
doaj   +5 more sources

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

Molecular Genetics and Metabolism Reports, 2018
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 subunits of the branched-chain α-keto acid ...
Ernie Zuraida Ali, Lock-Hock Ngu
doaj   +2 more sources

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate [PDF]

Case Reports in Pediatrics, 2017
In treatment of metabolic imbalances caused by maple syrup urine disease (MSUD), peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be used in addition to basic dietary modifications. Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate (NaPB) in urea‐cycle disorder cases has been
Melis Köse, Ebru Canda, Mehtap Kagnici, Sema Kalkan Uçar, Mahmut Çoker   +4 more
openaire   +6 more sources

Maple syrup urine disease (MSUD): Screening for known mutations in Italian patients

Journal of Inherited Metabolic Disease, 1994
SummaryMaple syrup urine disease (MSUD) is an autosomal recessive disease due to deficiency of the branched‐chain α‐ketoacid dehydrogenase (BCKDH) caused by a large number of mutations. In the present study, DNA from Italian patients and their relatives was examined for three point mutations (Y393N in the E1α gene, T841G and G1031A in the E2 gene) and ...
8.9. Parrella T, Surrey S, Iolascon A, Sartore M, Heidenreich R, Diamond G, Ponzone A, GUARDAMAGNA, Ornella, Burlina AB, Cerone R, Parinii R, Dionisi Vici C, Rappaport E, Fortina P.   +13 more
openaire   +6 more sources

Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases

Health Science Reports
Background and Aim Maple Syrup Urine Disease (MSUD) is a metabolic disorder affecting branched‐chain amino acid metabolism. While neurological symptoms are well‐characterized, cutaneous manifestations such as acrodermatitis dysmetabolica (AD) caused by ...
Bahareh Abtahi‐naeini, Motahar Heidari‐Beni, Noushin Rostampour, Naeimeh Davoudi, Sarah Seyedyousefi   +4 more
doaj   +2 more sources

Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis

Journal of Pediatric Endocrinology and Metabolism, 2022
Abstract Objectives Maple syrup urine disease (MSUD) is an inborn metabolic disease. The nutritional treatment with restricted intake of branched chain amino acids and prevention of leucine toxicity are crucially important for a favorable outcome.
Tuğba Kozanoğlu, Mehmet Cihan Balcı, Meryem Karaca, Gülden Fatma Gökçay   +3 more
openaire   +3 more sources

Maple Syrup Urine Disease (MSUD) detected in neurologic disorders Iraqi children

Journal of Contemporary Medical Sciences, 2016
Background Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a deficiency in the activity of the branched chain alpha-keto acid dehydrogenase impairing the degradation of the branched chain amino acids (leucine, isoleucine ...
Adel A. Kareem, Asaad Muhsen Abood, Abdul Mahdi A. Hasan   +2 more
doaj   +1 more source

Genotipado para MSUD, osteopetrosis y sindactilia en bovinos de carne de la región este de Uruguay [PDF]

, 2017
Las enfermedades hereditarias son una causa de preocupación creciente a nivel mundial. Las técnicas actuales de mejoramiento genético en bovinos han llevado a propagar en todo el mundo características productivas económicamente valiosas, pero también ...
Romero Benavente, Agustín
core   +7 more sources

Design of a mSUD Taiwan Taigi TreebankAligned on Mandarin and Teochew Translations

This paper presents the design choices and the first (preliminary) release of a trilingual treebank of Taigi sentences aligned ontranslations into Mandarin and Teochew.The three languages come with morphosyntactic annotations following the joint morphology and Surface syntactic Universal Dependencies (mSUD) scheme. We provide 54 annotated and validated
Magistry, Pierre, Wang, Ilaine
core   +5 more sources

A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD)

, 2023
A metabolic disorder is due to a gene mutation that causes an enzyme deficiency which leads to metabolism problems. Maple Syrup Urine Disease (MSUD) is one of the most common and severe hereditary metabolic disorders in Saudi Arabia.
Haneen Reda Banjar
core   +1 more source