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The treatment of maple syrup urine disease
The Journal of Pediatrics, 1969Summary 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 ...
S I, Goodman +3 more
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Hypoglycemia in Maple Syrup Urine Disease
Archives of Pediatrics & Adolescent Medicine, 1967HYPOGLYCEMIA associated with maple syrup urine disease has been observed by MacKenzie and Woolf, 1 Silberman, et al, 2 Lonsdale and Barber, 3 and Menkes (oral communication, 1966). Several investigators have speculated as to whether the mechanism resembles that of leucine sensitive hypoglycemia as originally described by Cochrane.
G N, Donnell +3 more
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Inflammation in maple syrup urine disease
Clinica Chimica ActaMaple syrup urine disease (MSUD), also called leucinosis, is a rare inborn error of metabolism characterized by the deficiency of an enzyme complex: branched-chain alpha-keto acid dehydrogenase (BCKAD). This complex is located in the mitochondria and is responsible for metabolizing the three essential branched-chain amino acids (BCAA): isoleucine ...
Ana Kalise, Böttcher +6 more
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Scoliosis and Maple Syrup Urine Disease
Journal of Pediatric Orthopaedics, 1984The intermediate variant of maple syrup urine disease produced frequent infections and significant mental retardation in a young female patient recently treated for scoliosis. There were no problems with infection, wound healing, or fusion with a regimen consisting of a low protein diet, perioperative antibiotics, good hydration, and early ...
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The Therapy of Maple Syrup Urine Disease
Archives of Pediatrics & Adolescent Medicine, 1967BOTH THE clinical picture and the metabolic abnormality in maple urine disease pose special problems in its management. The rapid progression of symptoms (from feeding problems and apathy to the onset of central nervous system signs with periods of hypertonicity alternating with hypotonia, loss of Moro's reflex, difficulties with respiration to ...
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2005
Abstract Maple syrup urine disease (MSUD) is a heterogeneous genetic disorder resulting from over 50 known mutations that impair the mitochondrial branched-chain a-ketoacid dehydrogenase (BCKD) complex. The components of the BCKD complex include E1, a decarboxylase; E2, an acyl transferase; and E3, a lipomide dehydrogenase (dihydrolipoyl
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Abstract Maple syrup urine disease (MSUD) is a heterogeneous genetic disorder resulting from over 50 known mutations that impair the mitochondrial branched-chain a-ketoacid dehydrogenase (BCKD) complex. The components of the BCKD complex include E1, a decarboxylase; E2, an acyl transferase; and E3, a lipomide dehydrogenase (dihydrolipoyl
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1995
Maple syrup urine (MSUD) is a heterogeneous disorder. Classification is based on clinical presentation and outcome. Clinically, four phenotypes can be distinguished: classical, intermediate, intermittent and thiamine-responsive forms of MUSD. All forms have an aurosomal recessive mode of inheritance.
Marjo S. van der Knaap, Jacob Valk
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Maple syrup urine (MSUD) is a heterogeneous disorder. Classification is based on clinical presentation and outcome. Clinically, four phenotypes can be distinguished: classical, intermediate, intermittent and thiamine-responsive forms of MUSD. All forms have an aurosomal recessive mode of inheritance.
Marjo S. van der Knaap, Jacob Valk
openaire +1 more source