𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Exchange transfusion in acute episodes of maple syrup urine disease

✍ Scribed by U. Wendel; U. Langenbeck; I. Lombeck; H. J. Bremer

Publisher
Springer
Year
1982
Tongue
English
Weight
428 KB
Volume
138
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.

✦ Synopsis

Two neonates with maple syrup urine disease were treated by exchange transfusion. Within 15 h blood leucine and K/CA concentrations were lowered from 2.6raM to 1.1raM using 570 to 620ml blood per kg body weight. The other branched-chain amino acid/keto acid pairs fell to normal. During exchange transfusion the patient's nitrogen balance seems to be negative. Further exchange transfusion was useless. More importantly the patient should be forced into an anabolic state by high caloric supply or insulin plus glucose treatment. More K/CA than leucine was eliminated, however, K/CA blood levels remained slightly higher than that of leucine indicating different leucine/KICA equilibria in extravascular compartments than in blood. In a given time interval exchange transfusion was more effective than peritoneal dialysis, probably due to a lack of an additional (peritoneal) membrane. Renal excretion of branched-chain amino and keto acids was very inefficient. The allegedly most toxic metabolite, K/CA, had the lowest renal clearance of the branched-chain keto acids.

πŸ“œ SIMILAR VOLUMES

Acute axonal neuropathy in maple syrup u
Acute axonal neuropathy in maple syrup urine disease
✍ Kleopas A. Kleopa; David M. Raizen; Christopher A. Friedrich; Mark J. Brown; Sha πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 126 KB
Maple syrup urine disease: Treatment of
Maple syrup urine disease: Treatment of the acutely ill newborn
✍ G. Hammersen; L. Wille; H. Schmidt; P. Lutz; H. Bickel πŸ“‚ Article πŸ“… 1978 πŸ› Springer 🌐 English βš– 530 KB

Three patients with maple syrup urine disease were treated during the acute neonatal stage. Multiple exchange transfusions proved to be a satisfactory means of achieving rapid clinical and biochemical improvement during this phase. On the other hand, evidence is provided suggesting that in addition

Mutational spectrum of maple syrup urine
Mutational spectrum of maple syrup urine disease in Spain
✍ Pilar RodrΓ­guez-Pombo; Rosa Navarrete; BegoΓ±a Merinero; Paulino GΓ³mez-Puertas; M πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 496 KB

Mutations in any of the three different genes BCKDHA, BCKDHB, and DBT encoding for the E1alpha, E1beta, and E2 catalytic components of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex can cause maple syrup urine disease (MSUD). The disease presents heterogeneous clinical and molecular