Article
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2016
Immonen Tuuli, Ahola Emilia, Toppila Jussi, Lapatto Risto, Tyni Tiina, Lauronen Leena
Abstract excerpt
BACKGROUND: The neonatal screening and early start of the dietary therapy have improved the outcome of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). The acute symptoms of LCHADD are hypoketotic hypoglycemia, failure to thrive, hepatopathy and rhabdomyolysis. Long term complications are retinopathy and neuropathy. Speculated etiology of these long term complications are the accumulation and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
