title: Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients.
abstract: 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 toxicity of hydroxylacylcarnitines and long-chain fatty acid metabolites or deficiency of essential fatty acids.
  
  
  
  To study the possible development of polyneuropathy in LCHADD patients with current dietary regimen.
  
  
  
  Development of polyneuropathy in 12 LCHADD patients with the homozygous common mutation c.G1528C was evaluated with electroneurography (ENG) studies. The ENG was done 1-12 times to each patient, between the ages of 3 and 40 years. Clinical data of the patients were collected from the patient records.
  
  
  
  The first sign of polyneuropathy was detected between the ages of 6-12 years, the first abnormality being reduction of the sensory amplitudes of the sural nerves. With time, progression was detected by abnormalities in sensory responses extending to upper limbs, as well as abnormalities in motor responses in lower limbs. Altogether, eight of the patients had polyneuropathy, despite good compliancy of the diet.
  
  
  
  This study is the first to report the evolution of polyneuropathy with clinical neurophysiological methods in a relative large LCHADD patient group. Despite early start, and good compliance of the therapy, 6/10 of the younger patients developed neuropathy. However, in most patients the polyneuropathy was less severe than previously described.
authors.affiliation: Children's Hospital, University of Helsinki, Helsinki University Hospital, Finland. Electronic address: tuuli.immonen@hus.fi.
authors.forename: Tuuli
authors.initials: T
authors.lastname: Immonen
authors.affiliation: Children's Hospital, University of Helsinki, Helsinki University Hospital, Finland.
authors.forename: Emilia
authors.initials: E
authors.lastname: Ahola
authors.affiliation: Department of Clinical Neurophysiology, Children's Hospital, University of Helsinki, HUS Medical Imaging Center, Finland.
authors.forename: Jussi
authors.initials: J
authors.lastname: Toppila
authors.affiliation: Children's Hospital, University of Helsinki, Helsinki University Hospital, Finland.
authors.forename: Risto
authors.initials: R
authors.lastname: Lapatto
authors.affiliation: Children's Hospital, University of Helsinki, Helsinki University Hospital, Finland.
authors.forename: Tiina
authors.initials: T
authors.lastname: Tyni
authors.affiliation: Department of Clinical Neurophysiology, Children's Hospital, University of Helsinki, HUS Medical Imaging Center, Finland.
authors.forename: Leena
authors.initials: L
authors.lastname: Lauronen
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D009202:Cardiomyopathies / Q000178:diet therapy* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004035:Diet Therapy; D018450:Disease Progression; D004568:Electrodiagnosis; D004576:Electromyography; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000178:diet therapy* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000178:diet therapy* / Q000235:genetics*; D063991:Mitochondrial Trifunctional Protein / Q000172:deficiency* / Q000235:genetics; D009154:Mutation / Q000235:genetics; D015997:Neonatal Screening; D009422:Nervous System Diseases / Q000178:diet therapy* / Q000235:genetics*; D010349:Patient Compliance; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D012206:Rhabdomyolysis / Q000178:diet therapy* / Q000235:genetics*; D055815:Young Adult
chemical_list: D063991:Mitochondrial Trifunctional Protein
keywords: Fatty acid oxidation disorders; Inborn errors of metabolism; Mitochondrial fatty acid β-oxidation; Polyneuropathy