Results 21 to 30 of about 9,849 (231)

Outcomes from a Single Transplant Center of 5 Pediatric Cases of Domino Liver Transplantation from Live Donors with Maple Syrup Urine Disease. [PDF]

Ann Transplant, 2023
Zhang JP, Zhu ZJ, Sun LY, Wei L, Qu W, Zeng ZG, Zhang HM, Liu Y.   +7 more
europepmc   +2 more sources

HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease. [PDF]

JIMD Rep
ABSTRACT Mitochondrial HMG‐CoA synthase‐2 (HMGCS2) deficiency is characterized by hypoketotic hypoglycemia, metabolic acidosis, hepatomegaly, and encephalopathy with onset between 3 and 36 months of age. Approximately 50 cases were reported worldwide. We describe two patients with HMGCS2 deficiency.
Vaseenon H, Tim-Aroon T, Saengow VE, Sangcakul A, Wongkittichote P, Khongkraparn A, Wattanasirichaigoon D.   +6 more
europepmc   +2 more sources

Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype. [PDF]

JIMD Rep
Singh E, Chi YI, Kopesky J, Zimmerman M, Urrutia R, Basel D, Schwoerer JS.   +6 more
europepmc   +3 more sources

An induced pluripotent stem cell line (SDQLCHi033-A) derived from a patient with maple syrup urine disease type Ib carrying a homozygous mutation in BCKDHB gene

Stem Cell Research, 2021
Maple syrup urine disease (MSUD) type Ib is a subclass of MSUD (248600) which is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex. An induced pluripotent stem cell (iPSC) line was generated from an 11-
Bin Wang, Chen Liu, Haiyan Zhang, Zhongtao Gai, Yi Liu   +4 more
doaj   +1 more source

Pregnancy in an adolescent with maple syrup urine disease: Case report

Molecular Genetics and Metabolism Reports, 2021
Maple syrup urine disease (MSUD, MIM #248600) is an autosomal recessive metabolic disorder that results in elevation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine.
Michelle E. Abadingo, Mary Ann R. Abacan, Jeanne Ruth U. Basas, Carmencita D. Padilla   +3 more
doaj   +1 more source

Domino Liver Transplantation: Anesthetic Considerations for a Patient With Maple Syrup Urine Disease and Type I Diabetes Mellitus. [PDF]

Cureus
Southard-Goebel C, Serrano RA.
europepmc   +3 more sources

Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease [PDF]

Annals of Indian Academy of Neurology
Hui Zhu, Yi Zhong, Shuyao Zhu
doaj   +2 more sources

A Case of Maple Syrup Urine Disease Diagnosed in Adulthood

Annals of Internal Medicine: Clinical Cases, 2022
Classic maple syrup urine disease (MSUD) is typically diagnosed in newborns, whereas nonclassic forms may manifest at any age. We describe a 58-year-old man presenting with recurrent encephalopathy, found with a nonclassic form of MSUD. This patient case
Janaki D. Vakharia, Matthew L. Lorenz, Chanika Phornphutkul   +2 more
doaj   +1 more source

Features of clinical manifestations and treatment of individual nosological forms of hereditary metabolic diseases

Лечащий Врач, 2021
We reviewed main clinical approaches to diagnostics and therapy of key life-threatening hereditary amino-acid metabolism diseases related to the group of organic acidurias, such as maple syrup urine disease (MSUD).
L. V. Goroshko, E. G. Bakulina
doaj   +1 more source

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

Nature Communications, 2022
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, which is currently treated with life-long low-protein diet that can be challenging to maintain.
Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff   +15 more
doaj   +1 more source