Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.
This paper summarizes the published experience as well as results of the 3rd International Workshop on Glutaryl-CoA Dehydrogenase Deficiency held in October 2003 in Heidelberg, Germany, on the topic treatment of patients with glutaryl-CoA dehydrogenase (GCDH) deficiency. So far no international recommendation for treatment of GCDH deficiency exists. Such an approach is hampered by several facts, namely the lack of an in-depth understanding of the pathophysiology of the disease, the lack of prospective studies, including the evaluation of drug monotherapy, and lack of objective documentation of clinical changes (e.g. video documentation) during pharmacotherapy.
Mühlhausen
C
C
Departments of Paediatrics, Metabolic Service, University Medical Centers Hamburg, D-20246 Hamburg, Germany.
Hoffmann
G F
GF
Strauss
K A
KA
Kölker
S
S
Okun
J G
JG
Greenberg
C R
CR
Naughten
E R
ER
Ullrich
K
K
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000628:therapy*; D000818:Animals; D000975:Antioxidants / Q000627:therapeutic use; D002331:Carnitine / Q000627:therapeutic use; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D008991:Monitoring, Physiologic; D009422:Nervous System Diseases / Q000188:drug therapy / Q000209:etiology; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency*; D012256:Riboflavin / Q000627:therapeutic use
D000975:Antioxidants; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; D002331:Carnitine; D012256:Riboflavin