Results 201 to 210 of about 26,062 (264)

Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland

Journal of Inherited Metabolic Disease, 2020
Since 1972, 18 patients (10 females/8 males) have been detected by newborn bloodspot screening (NBS) with neonatal‐onset maple syrup urine disease (MSUD) in Ireland.
Daniel O'Reilly, E. Crushell, J. Hughes, S. Ryan, Y. Rogers, I. Borovickova, P. Mayne, M. Riordan, A. Awan, K. Carson, Kim Hunter, B. Lynch, A. Shahwan, V. Rüfenacht, J. Häberle, E. Treacy, A. Monavari, I. Knerr   +17 more
semanticscholar   +1 more source

Genotype–phenotype correlation of 33 patients with maple syrup urine disease

American Journal of Medical Genetics. Part A, 2020
Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder due to defects in the branched‐chain α‐ketoacid dehydrogenase complex (BCKDC). MSUD varies in severity and its clinical spectrum is quite broad, ranging from mild to severe
O. Khalifa, F. Imtiaz, K. Ramzan, O. Zaki, R. Gamal, Lina Elbaik, Shaimaa Rihan, E. Salam, Rehab M. Abdul-Mawgoud, Magdy M. Hassan, Nahla S Hassan, E. Saleh, D. Seoudi, A. Moustafa   +13 more
semanticscholar   +1 more source

Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2020
Objectives Accurate management of metabolic decompensation in maple syrup urine disease (MSUD) has a crucial role, as acute attacks can cause neurological sequels and can be life threatening.
T. Zubarioglu, E. Dede, Humeyra Cigdem, E. Kıykım, M. Cansever, Çiğdem Aktuğlu-Zeybek   +5 more
semanticscholar   +1 more source

The treatment of maple syrup urine disease

The Journal of Pediatrics, 1969
Summary The early management of 3 infants with maple syrup urine disease is described with particular reference to variations in daily requirements for branched-chain amino acids. The use of a new dry base mix consisting of a dextrimaltose-corn oil-mineral mix, an iron-vitamin mix, and an amino acid mix as a formula base has facilitated earlier home ...
Shlomo Pollak, Stephen I. Goodman, Barbara S. Miles, Donough O'Brien   +3 more
openaire   +3 more sources

Maple Syrup Urine Disease

American Journal of Diseases of Children, 1963
More than 20 instances of maple syrup urine disease (MSUD) have been described since 1954. Most were infants, who manifested in the first month of life a maple syrup odor in their urine and a clinical pattern of fits, episodic rigidity, lethargy, and poor suck. When measured, their blood and urine levels were found to be elevated for the branched-chain
Charles D. Hancock, Norman C. Woody
openaire   +3 more sources

Maple Syrup Urine Disease in Negro Infant

Archives of Pediatrics & Adolescent Medicine, 1963
Since 1954, fourteen infants have been described as having an inborn error of metabolism manifested by signs of central nervous system (CNS) derangement in association with either maple-syrup-scented urine or demonstrable elevations of branched-chain amino acids (or their α-keto acids) in urine, blood, or spinal fluid (Table 1).
Thomas D. Tilden, Hannah B. Woody, Norman C. Woody   +2 more
openaire   +3 more sources

[Maple syrup urine disease].

La Radiologia medica, 2001
PubMed: 11677467 [No abstract available]
Incesu L., Tasdemir H.A., Yazicioglu A.K., Belet U., Danaci M.   +4 more
openaire   +2 more sources

Implications of Maple Syrup Urine Disease in Newborns

Nursing for Women's Health, 2017
Maple syrup urine disease (MSUD) is an inherited metabolic disorder that affects the body's ability to metabolize amino acids. If left untreated, it places newborns at risk for life-threatening health problems, including episodes of illness called metabolic crisis.
Pamela Harris-Haman, Lenora Brown, Sivaranjani Ramamoorthy, Susan Massey   +3 more
openaire   +3 more sources

Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor‐Recipient Pairs

Liver transplantation, 2019
Liver transplantation (LT) has been shown to be a feasible treatment in patients with severe forms of maple syrup urine disease (MSUD). Because of a sufficient extrahepatic enzyme activity in non‐MSUD individuals, the organ of MSUD patients can be used ...
U. Herden, E. Grabhorn, R. Santer, Jun Li, S. Nadalin, X. Rogiers, M. Scherer, F. Braun, J. Beime, H. Lenhartz, A. Muntau, L. Fischer   +11 more
semanticscholar   +1 more source

Cerebral Edema in Maple Syrup Urine Disease

Archives of Pediatrics & Adolescent Medicine, 1982
Mantovani et al1have recently reported the occurrence of pseudotumor cerebri and computed tomographic (CT) abnormalities in two patients with classic maple syrup urine disease (MSUD). We have observed the same CT abnormalities and clinical evidence of cerebral edema in a 12-day-old boy with MSUD, and suggest that this complication may in fact be more ...
M S Lungarotti, E Signorini, A Calabro, L R Garibaldi   +3 more
openaire   +3 more sources