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Maple Syrup Urine Disease (MSUD)
Published in Charles Theisler, Adjuvant Medical Care, 2023
Maple syrup urine disease is an inherited disorder that affects branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor that emanates from an affected infant's urine. This disorder is
Contraindications to breastfeeding
Published in Amy Brown, Wendy Jones, A Guide to Supporting Breastfeeding for the Medical Profession, 2019
Maple syrup urine disease is a life-threatening condition if not detected and treated early. It is an autosomal-recessive disorder caused by a defect in the metabolism of the three branched-chain amino acids. It affects approximately one live birth in every 185,000 per year worldwide (Walker 2006). A delay in diagnosis longer than 14 days is invariably associated with mental retardation and cerebral palsy. Treatment relies on dietary restriction of branched-chain amino acids for life. In a study one baby was breastfed under controlled conditions after the control of acute metabolic problems. The baby continued with breastfeeding on demand and with the addition of a special essential amino acid mixture. However, the baby experienced difficulties both in metabolic control and in insufficiency of breast milk, resulting in termination of breastfeeding (Huner et al. 2005).
Understanding the importance of breastmilk
Published in Wendy Jones, Breastfeeding and Medication, 2018
This is caused by a mutation in at least four genes (Walker 2006). Maple syrup urine disease affects approximately two live births per year. The classic condition is recognised in newborns between 4 and 7 days after birth although breastfeeding may delay the onset until the second week of life. A delay in diagnosis longer than 14 days is invariably associated with mental retardation and cerebral palsy. Treatment relies on dietary restriction of branched-chain amino acids for life.
EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance
Published in The Neurodiagnostic Journal, 2021
Rajesh P. Poothrikovil, Khalid Al Thihli, Amna Al Futaisi
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder characterized by deficiency of branched-chain keto acid dehydrogenase complex, which is required to metabolize the three branched chain amino acids (BCAAs) leucine, isoleucine and valine. This deficiency leads to an abnormal accumulation of BCAAs and their toxic byproducts, namely alpha-ketoacids, typically detectable in the blood and urine. MSUD is thus one of the main organic acidurias, a group of disorders characterized by the excretion of non-amino organic acids in urine (Clague and Thomas 2002). During the neonatal period, this metabolic dysfunction results in progressive encephalopathy with symptoms of lethargy, vomiting, posturing and abnormal movements in neonates; the classic form of the disease. If untreated, progressive brain damage causes coma, seizures and death usually within a few weeks (Seashore 2009). The major clinical features of MSUD are delayed psychomotor development, feeding difficulties and a characteristic odor of maple syrup which can be detected in the urine (Papetti et al. 2013). Currently, there are five types of MSUD: classic, intermediate, intermittent, thiamine responsive and dihydrolipoamide dehydrogenase deficient (Seashore 2009). These classifications are based on the severity of the disease, age of onset, response to thiamine therapy and the affected gene locus. All forms are inherited as autosomal recessive traits. Imaging in classic MSUD patients may show brain edema affecting the myelinated white matter, thalami and globi pallidi (Poretti et al. 2013)
Symptoms and Problems in Children with Inherited Metabolic Diseases and Factors Affecting the Caregiver Burden of Mothers
Published in Comprehensive Child and Adolescent Nursing, 2020
Tuba Arpaci, Naime Altay, Ebru Kilicarslan Toruner, Mehmet Gunduz
The three most common diagnoses were glycogen storage disease (19.1%), phenylketonuria (14.9%), and hereditary fructose intolerance (12.8%) (Table 1), followed by familial hyperlipidemia (10.6%), mucopolysaccharidosis (8.5%), maple syrup urine disease (6.4%), familial hypercholesterolemia (4.3), methylmalonic acidemia (4.3%), galactosemia (4.3%), Gaucher disease type 1 (4.3%), and others (10.6%). In this study, 14.9% of children had additional anomalies unrelated to their disease and 38.3% of children were hospitalized at least once in the last year. Of children, 85.3% and 36.6% had difficulty following their diet and managing their medication, respectively. Only two children received their nutrition through gastrostomy feeding tubes.
Inherited hyperammonemias: a Contemporary view on pathogenesis and diagnosis
Published in Expert Opinion on Orphan Drugs, 2018
Evelina Maines, Giovanni Piccoli, Antonia Pascarella, Francesca Colucci, Alberto B. Burlina
The majority of OAs causing hyperammonemia results from a defect in the branched-chain amino acids (BCAAs) catabolism. The most important are propionic acidemia (PA, OMIM #606054), methylmalonic acidemia (MMA, OMIM #251000), and isovaleric acidemia (IVA, OMIM #243500). Hyperammonemia may be also a feature of severe forms of maple syrup urine disease (MSUD, OMIM #248600) [74]. The diagnosis of these disorders is based on acylcarnitines profiles identified by primary biomarkers [75–78] and in some cases by second-tier testing to improve the positive predictive value of NBS [78,79].