Results 71 to 80 of about 5,966 (238)
Stem Cell Research, 2019 Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral
Yue Li +10 more
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Emergency Management of Intoxication‐Type Inherited Metabolic Disorders
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley +1 more source
JIMD Reports, Volume 66, Issue 2, March 2025.ABSTRACT Recent advancements in new‐born screening have reduced the risk of life‐threatening complications associated with inherited metabolic disorders. However, the risk of negative psychosocial effects on families persists. The aim of the present study was to systematically review the literature concerning the psychosocial challenges experienced by ...
Clara Sherlock, Kim Clarke, Norah Jordan
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The branched‐chain amino acid‐related isoleucic acid: recent research advances
Plant Biology, Volume 27, Issue 2, Page 195-202, March 2025.Isoleucic acid, detected together with its deactivated glucosylated form in diverse plant species, plays a key role in activating defence responses and inhibiting root growth, although its biosynthetic gene remains elusive. Abstract Isoleucic acid (ILA) was identified in human patients with maple syrup urine disease (MSUD) half a century ago.
D. W. Mekonnen +3 more
wiley +1 more source
Case report: maple syrup urine disease with a novel DBT gene mutation
BMC Pediatrics, 2019 Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex.
Wei Feng +3 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2018 Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened.
Kimberly A. Chapman +3 more
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Maple syrup urine disease presenting as severe neonatal metabolic encephalopathy: a case report
, 2020 A study done by Dindagur N et al, found that among 3550 symptomatic Indian children, 113 cases (3.2%) were identified with a metabolic disorder.
R. Patil +4 more
semanticscholar +1 more source
Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics
Cureus, 2020 Maple syrup urine disease, an inherited disorder of metabolism, is characterised by deficient activity of the branched-chain alpha-keto acid dehydrogenase complex (BCKAD) enzyme, resulting in an accumulation of branched-chain amino acids.
S. Rauf +4 more
semanticscholar +1 more source
Clinical Case Reports, Volume 13, Issue 2, February 2025.Key Clinical Message Metronidazole‐induced encephalopathy (MIE) is a rare but reversible condition that can present with nonspecific neurological symptoms, making early recognition and diagnosis challenging. Magnetic resonance imaging (MRI) is crucial in identifying typical brain lesions associated with MIE.
Mahmoud Draidi +5 more
wiley +1 more source
Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease
Molecular Genetics and Metabolism Reports, 2015 Maple syrup urine disease is caused by a deficiency in the branched chain ketoacid dehydrogenase (BCKAD) complex. This results in the accumulation of branched chain amino acids (BCAA) and branched chain ketoacids in the body.
H.L. Chin +6 more
doaj +1 more source