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Maple syrup urine disease

Maple Syrup Urine Disease (MSUD)
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Maple syrup urine disease" returned 1 free, full-text review articles. First 1 results:
Successful pregnancy in maple syrup urine disease: a case report and review of the literature.
Last Updated: Apr 29, 2019

Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. Patients with MSUD are at risk of life-threatening metabolic decompensations with ketoacidosis and encephalopathy. These episodes are often triggered by physiological stress. ...

Domino liver transplantation in maple syrup urine disease: a case report and review of the literature.
Last Updated: Mar 18, 2013

Improved outcomes have expanded the indications for liver transplantation, thus aggravating the already limited supply of donor organs. Domino liver transplantation (DLT) has been one strategy to augment the supply of donor organs in cases of inborn errors of metabolism. One such ...

Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy.
Last Updated: Jan 14, 2019

Maple syrup urine disease (MSUD) was first recognized as an inherited lethal encephalopathy beginning in the first week of life and associated with an unusual odor in the urine of affected children. It was later confirmed as a deficiency of branched-chain keto acid dehydrogenase (BCKDH), ...

Full PubMed Review articles matches at NCBI:
1 Free Review Articles 13 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Maple syrup urine disease" returned 0 free, full-text editorial articles. First 0 results:
Full PubMed Editorials matches at NCBI:
0 Free Editorials 1 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Maple syrup urine disease" returned 101 free, full-text research articles. First few results:
Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening.
Last Updated: Jul 22, 2019

Maple syrup urine disease (MSUD) is a rare autosomal recessive genetic metabolic disease, with a high incidence rate in infants. We analyzed the data of molecular genetic analysis of five infants whose metabolism screening suspected MSUD and described their clinical symptoms. Further, ...

Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease.
Last Updated: Sep 09, 2019

Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by mutations in genes that encode subunits of the branched‑chain α‑ketoacid dehydrogenase (BCKD) complex. Impairment of the BCKD complex results in an abnormal accumulation of branched‑chain ...

DNA damage induced by alloisoleucine and other metabolites in maple syrup urine disease and protective effect of l-carnitine.
Last Updated: Dec 10, 2019

Maple syrup urine disease (MSUD) is an inherited deficiency of the branched-chain α-keto dehydrogenase complex, characterized by accumulation of the branched-chain amino acids (BCAAs) and their respective branched chain α-keto-acids (BCKAs), as well as by the presence of alloisoleucine ...

Full PubMed Research articles matches at NCBI:
101 Free Research Articles 411 Research Articles