Riboflavin Nonresponsive Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) with Early Severe Cardiomyopathy: Favorable Long-Term Outcome of a Severe Neonatal Presentation on D,L-3-hydroxybutyrate Supplementation

2020 ◽  
Author(s):  
F. Seggewies ◽  
L. Guilder ◽  
R. Olsen ◽  
J. Deanfield ◽  
S. Olpin ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Neonatal Presentation

scholarly journals Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Sinziana Stanescu ◽  
Amaya Belanger-Quintana ◽  
Carlos Alcalde Martin ◽  
Celia Pérez-Cerdá Silvestre ◽  
Begoña Merinero Cortés ◽  
...  
Keyword(s):  
Electron Transfer ◽  
Dehydrogenase Deficiency ◽  
Autosomal Recessive Disorder ◽  
Acid Oxidation ◽  
Metabolic Decompensation ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Transfer Protein ◽  
Electron Transfer Protein

Background. Multiple acyl-CoA dehydrogenase deficiency is an autosomal recessive disorder of the amino acid metabolism and fatty acid oxidation due to the deficiency of the electron transfer protein or electron transfer protein ubiquinone oxidoreductase. The clinical picture ranges from a severe neonatal lethal presentation to late myopathic forms responsive to riboflavin. Up to now, there is no effective treatment for the neonatal form, which exhibits severe metabolic acidosis, hyperammonemia, hypoketotic hypoglycemia, and rhabdomyolysis. We present the case of a child who has had a good long-term outcome after a typical neonatal onset, with a dramatic drop in ammonia levels during the initial metabolic decompensation crisis and adequate control even during intercurrent diseases thereafter with N-carbamylglutamate treatment.

scholarly journals Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

2018 ◽  
Vol 16 ◽  
pp. 31-35
Author(s):  
Karolina M. Stepien ◽  
Philomena McCarthy ◽  
Eileen P. Treacy ◽  
James J. O'Byrne ◽  
Gregory M. Pastores
Keyword(s):  
Dehydrogenase Deficiency ◽  
Term Outcome ◽  
Long Term Outcome

Long-term outcome of treatment with cyclosporine IV for patients with intractable ulcerative colitis

2001 ◽  
Vol 120 (5) ◽  
pp. A624-A624 ◽  
Author(s):  
J ARTS ◽  
M ZEEGERS ◽  
G DHAENS ◽  
G VANASSCHE ◽  
M HIELE ◽  
...  
Keyword(s):  
Ulcerative Colitis ◽  
Term Outcome ◽  
Long Term Outcome

1519: Long Term Outcome of Interstitial Laser Coagulation for Benign Prostatic Hyperplasia

2006 ◽  
Vol 175 (4S) ◽  
pp. 490-490
Author(s):  
Stefan Zastrow ◽  
Sven Oehlschläger ◽  
Oliver W. Hakenberg ◽  
Steffen Leike ◽  
Manfred P. Wirth
Keyword(s):  
Benign Prostatic Hyperplasia ◽  
Prostatic Hyperplasia ◽  
Laser Coagulation ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Interstitial Laser
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