MSUD


Also found in: Acronyms.

MSUD

Maple sugar urine disease, see there.

MSUD

Abbreviation for maple syrup urine disease.
References in periodicals archive ?
In Taiwan, the newborn screening at the national level revealed phenylalanine metabolism defect as the most common defect of IEM followed by MSUD. [34-36] IEM screening should be done for the betterment of any country's health and wealth, but it is still lacking due to various hurdles coming in its way like financial constraints as it is quite expensive, so every individual person or country cannot afford it and also there is a lack of education and awareness among the citizens of one's country regarding the importance of IEM or its role in the well-being of the child in near future.
A 2.5-year-old male patient was diagnosed as having MSUD in the neonatal period and was followed up by Istanbul University, Cerrahpasa Medical Faculty, Division of Pediatric Nutrition and Metabolism.
Here we presented a case with both MSUD and TIDM together with our dietary management approach.
Heck, "A rapid and sensitive UPLC-MS/MS-method for the separation and quantification of branched-chain amino acids from dried blood samples of patients with maple syrup urine disease (MSUD)," International Journal of Neonatal Screening, vol.
Six patients (60%) had the classic form of MSUD with BCKDHB mutation, three patients (30%) had the intermittent form (two with BCKDHA mutations and one with DBT mutation), and one patient (10%) had the thiamine-responsive form with DBT mutation.
Thus, the diagnosis of MSUD (maple syrup urine disease) was made based on clinical and biochemical data.
In this article, our main aim is to share our experience in a MSUD patient under hemodialysis for acute metabolic decompensation using Na phenylacetate/benzoate followed by NaPB to reduce the increased branched-chain amino acid levels after stopping hemodialysis for technical reasons.
Urine GC--MS showed elevation of MSUD metabolites (2-OH isovaleric, 2-Ketoisovaleric OX-2, 2-OH-3-methylvaleric2, 2-keto-3 methylvaleric OX-2, 2-ketoisocaproic OX-2).
Maple syrup urine disease (MSUD) is a Mendelian disease due to deficiency of the branched-chain ketoacid dehydrogenase complex (BCKDC) and associated with elevations in the BCAAs and their ketoacids [8].
These conditions are homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
The Newborn Blood Spot Screening Programme has been extended from January 5, to screen for an additional four rare, but potentially disabling, conditions which are homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
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).