Abstract
A clinical survey of Japanese patients with mitochondrial fatty acid β-oxidation and
related disorders (FAODs) was performed with questionnaires sent to 187 institutions,
where inborn errors of metabolism could be managed in Japan, including a search of
related literature published between 1985 and 2000. Sixty-four patients with ten types
of FAODs were found. Carnitine palmitoyltransferase 2 deficiency and glutaric aciduria
type 2 were most common (17 and 14 patients, respectively). As of 2000, there were
no patients with medium-chain acyl-CoA dehydrogenase deficiency, which is common in
Caucasians. Age at onset was under 2 years in 38 (59%) of the patients. Eight (13%)
patients had neonatal onset. Twenty-one (55%) of the 38 children with an initial attack
under 2 years of age had acute encephalopathy or a Reye syndrome-like illness. Half
of the patients presented within 2 years of birth died or were handicapped. On the
other hand, 19 (79%) of the 24 with onset after 2 years of age had muscle symptoms
and 23 (96%) of the 24 grew and developed normally. Though the precise incidence of
FAODs in Japan is still unknown, as a consequence of the development of diagnostic
procedures the number of FAOD cases being diagnosed appears to have increased. Mass
screening for FAODs during the neonatal period will greatly aid in prevention of attacks
and related effects.
Keywords
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Article info
Publication history
Accepted:
May 2,
2002
Received in revised form:
May 2,
2002
Received:
December 12,
2001
Identification
Copyright
© 2002 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
