Results 21 to 30 of about 2,974 (143)
Maple Syrup Urine Disease and Cerebral Edema
Pediatric Neurology Briefs, 1991 Cerebral edema causing death in four children with maple syrup urine disease (MSUD) is reported from St.
J Gordon Millichap
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International Journal of Neonatal Screening, 2022 Most state newborn screening programs in the U.S. currently contribute case data to the Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs).
Amel Omari +5 more
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Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
Clinical Case Reports, 2018 Key Clinical Message Twelve days after birth, the child was admitted to hospital because of “poor response, lethargy, and poor appetite for 6 days” and developed into coma immediately. The ventilator is required.
Wenjie Li +9 more
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Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
Molecular Genetics and Metabolism Reports, 2021 Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluids ...
Laura Guilder +8 more
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Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy
Pediatrics and Neonatology, 2016 Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine).
Jia-Woei Hou
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Nutrient management in the intrapartum period in maternal maple syrup urine disease
Molecular Genetics and Metabolism Reports, 2021 Women with congenital amino acid disorders, including maple syrup urine disease (MSUD), are at risk of metabolic crisis at delivery. There are still only a few case reports of maternal MSUD globally, and we are the first to report the successful ...
Chika Takano +10 more
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A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
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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
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Medium Chain Acyl‐CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis
JIMD Reports, Volume 67, Issue 5, September 2026.ABSTRACT Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) classically presents with hypoketotic hypoglycaemia; however, this presentation is now rare following the introduction of newborn screening. While children with MCADD may produce some ketones, severe ketoacidosis has not been previously described.
Nazreen Kamarus Jaman +7 more
wiley +1 more source