ArticleCureus2023
Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures.
Article in Cureus, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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0 citing papers in PubMed, 3 citations in OpenAlex.
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder. An enzyme complex called branched-chain alpha-keto acid dehydrogenase (BCKAD) metabolizes branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, in the body. The deficiency of this enzyme causes the accumulation of BCAAs in cerebrospinal fluid, plasma, and urine. This metabolic illness is defined by abnormal levels of BCAAs. The pathognomonic illness marker alloisoleucine is produced in the absence of the BCKAD enzyme, which is part of a metabolic pathway involving three BCAAs and gets accumulated in the body. Classically, affected neonates present with feeding problems, vomiting, lethargy, and irritability, leading to seizures, coma, and death if left untreated. Blood and urine analysis reveals an accumulation of BCAAs in the plasma and urine. Here, we report the case of a neonate on day 10 of life with febrile seizures and non-acceptance of feeds, who was diagnosed with the classical form of MSUD. This is a classic case of MSUD which was evaluated exhaustively and revealed all classic features clinically and on investigations.
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