Results 31 to 40 of about 11,541 (279)

Maple Syrup Urine Disease [PDF]

, 2023
Lesczcynski, Mackenzie
core   +3 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

Intramyelinic edema in maple syrup urine disease

Annals of Indian Academy of Neurology, 2014
Leema Pauline Cornelius, B. Kannan, Viveka Saravanan, Eswaradass Prasanna Venkatesan   +3 more
doaj   +4 more sources

Treatment of COVID-19 in a Patient With Maple Syrup Urine Disease. [PDF]

Cureus, 2022
Morton KF, Goetz RL, Linscott KB, Van Wagoner NJ.   +3 more
europepmc   +3 more sources

Maple syrup urine disease [PDF]

The Journal of Pathology and Bacteriology, 1961
Summary An example of “maple syrup urine”disease was confirmed by amino acid chromatography; its description is accompanied by a summary of the clinical features found in other reported cases. The characteristic pattern is that of an infant who, after thriving for the first few days of life, begins to nurse poorly, develops progressive depression of ...
C. F. Ross, G. Dutton, L. Crome
  +10 more sources

Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates

Journal of Inherited Metabolic Disease, 2023
Maple syrup urine disease (MSUD) is an inborn error of branched‐chain amino acid metabolism affecting several thousand individuals worldwide. MSUD patients have elevated levels of plasma leucine and its metabolic product α‐ketoisocaproate (KIC), which ...
K. Skvorak, Joyce Liu, Nikki Kruse, Roasa Mehmood, Subhamoy Das, S. Jenne, Chinping Chng, U. Loi Lao, Da Duan, Jonathan Asfaha, Faye Du, Leann Teadt, Antionette Sero, C. Ching, J. Riggins, L. Pope, Ping Yan, Harminder Mashiana, Moulay Hicham Alaoui Ismaili, K. McCluskie, G. Huisman, Adam P. Silverman   +21 more
semanticscholar   +1 more source

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

Maple Syrup Urine Disease: About a Case [PDF]

, 2023
Qualitative study of a clinical case, maple syrup urine disease (MAOJA), inborn error of metabolism of branched-chain amino acids with accumulation of these, resulting in severe neonatal encephalopathy, which, not being diagnosed, it leads to the ...
del Carmen, Yabor LabradaMaría, Elsy, Labrada González,, Isabel, Fong Betancourt María   +2 more
core   +2 more sources

Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al [PDF]

Molecular Genetics and Metabolism Reports
Chika Takano, Erika Ogawa, Natsuko Arai-Ichinoi, Mika Ishige   +3 more
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