TY - JOUR
T1 - Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults
AU - Yamada, Kenji
AU - Hasegawa, Yuki
AU - Yoshikawa, Yoko
AU - Takahashi, Tomoo
AU - Kobayashi, Hironori
AU - Mushimoto, Yuichi
AU - Purevsuren, Jamiyan
AU - Yamaguchi, Seiji
N1 - Copyright:
Copyright 2014 Elsevier B.V., All rights reserved.
PY - 2013/3
Y1 - 2013/3
N2 - Adult-onset inborn errors of metabolism (IEM) are very rare and their details remain unknown. Diagnosis, age at onset, clinical findings, and outcome of patients with IEM over 20 years old whose diagnosis were made at Shimane University between 2001 and 2010 were investigated. Out of 386 IEM cases identified, 24 cases (6.4%) were diagnosed during adulthood, among which 15 patients were adult onset. There were 11 cases with alkaptonuria, 6 patients with organic acidemia without alkaptonuria, 4 cases with urea cycle disorders and 3 subjects with fatty acid oxidation disorders. Outcome of adult-onset IEM are better than those of child-onset; however, some patients suffered from progressive neurological disorders because of the time lag before the diagnosis are determined after the onset. Blood acylcarnitines and urine organic acids should be analyzed for adult patients with unknown regression or mental retardation for early diagnosis.
AB - Adult-onset inborn errors of metabolism (IEM) are very rare and their details remain unknown. Diagnosis, age at onset, clinical findings, and outcome of patients with IEM over 20 years old whose diagnosis were made at Shimane University between 2001 and 2010 were investigated. Out of 386 IEM cases identified, 24 cases (6.4%) were diagnosed during adulthood, among which 15 patients were adult onset. There were 11 cases with alkaptonuria, 6 patients with organic acidemia without alkaptonuria, 4 cases with urea cycle disorders and 3 subjects with fatty acid oxidation disorders. Outcome of adult-onset IEM are better than those of child-onset; however, some patients suffered from progressive neurological disorders because of the time lag before the diagnosis are determined after the onset. Blood acylcarnitines and urine organic acids should be analyzed for adult patients with unknown regression or mental retardation for early diagnosis.
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U2 - 10.5692/clinicalneurol.53.191
DO - 10.5692/clinicalneurol.53.191
M3 - Article
C2 - 23524598
AN - SCOPUS:84875060620
VL - 53
SP - 191
EP - 195
JO - Clinical Neurology
JF - Clinical Neurology
SN - 0009-918X
IS - 3
ER -