Acute metabolic crises in
maple syrup urine disease after liver transplantation from a related heterozygous living donor.
Maple syrup urine disease: dif fusion-weighted MRI findings during acute metabolic encephalopathic crisis.
Hebert, "Exfoliative Erythroderma Resulting From Inadequate Intake of Branched-Chain Amino Acids in Infants With
Maple Syrup Urine Disease," JAMA Dermatology, vol.
[Mid-term outcome of 2 cases with
maple syrup urine disease: role of liver transplantation in the treatment].
(26.-) Brodtkorb E, Strand J, Backe PH, Lund AM, Bjoras M, Rootwelt T, et al..Four novel mutations identified in Norwegian patients result in intermittent
maple syrup urine disease when combined with the R301C mutation.
Glutamate and gamma-aminobutyric acid neuro-transmitter systems in the acute phase of
maple syrup urine disease and citrullinemia encephalopathies in newborn calves.
Based on our promising preclinical data, we plan to advance two Synthetic Biotic candidates into IND-enabling studies, broadening the platform's scope into immuno-oncology and adding an additional application in inborn errors of metabolism for the treatment of
maple syrup urine disease."
Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.
The NHS Newborn Blood Spot Screening programme will be expanded to screen for homocystinuria (HCU),
maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
At present, the NBS in the country includes screening of six disorders: congenital hypothyroidism, congenital adrenal hyperplasia, phenylketonuria, glucose-6-phosphate dehydrogenase deficiency, galactosemia and
maple syrup urine disease. The expanded screening will also include 22 more disorders such as hemoglobinopathies and additional metabolic disorders, namely organic acid, fatty acid oxidation, and amino acid disorders.
But the new scheme will check the same blood sample for five extra conditions:
maple syrup urine disease, homocystinuria and three types of acidaemia.
Individuals with Phenylketonuria (PKU),
Maple Syrup Urine Disease (MSUD), Tyrosinemia, Urea Cycle Disorders and Homocystinuria, which all require low-protein diets, are aware of this, and have been forced to endure medicinal tasting meals.
