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Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications
TLDR
Taking into consideration previous findings regarding PCCB mutations, it appears that this gene is particularly prone to posttranscriptional modifications such as missense mediated exon skipping, mRNA decay, or rapid product degradation.
Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome.
TLDR
A method to screen for and make a chemical diagnosis of beta-ureidopropionase deficiency, leading to the first asymptomatic case of this disease in Japan is reported, with results of a large-scale screening of 24,000 newborns.
Four-Hydroxyphenylpyruvic Acid Oxidase Deficiency with Normal Fumarylacetoacetase: a New Variant Form of Hereditary Hypertyrosinemia
TLDR
This is the first report concerning 4-hydroxyphenylpyruvic acid oxidase deficiency alone and the patient was thought to be different from previously described types of tyrosinemia and perhaps representative of a new variant form.
Gas chromatographic–mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples
TLDR
A pilot study of gas chromatographic–mass spectrometric screening of 12 000 newborns for PCCD using eluates from dried filter-paper urine collected at 4–7 days of age detected an asymptomatic male infant with distinctly elevated MC, and to date, he shows no neurological or somatic abnormalities.
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation
TLDR
High prevalence of p.R326Q in the normal Japanese population indicates that βUP deficiency is not as rare as generally considered and screening forβUP deficiency should be included in diagnosis of patients with unexplained neurological abnormalities.
Metabolism of branched medium chain length fatty acid. II--beta-oxidation of sodium dipropylacetate in rats.
TLDR
Data indicated that beta-oxidation was involved in the metabolism of sodium dipropylacetate as well as glucuronide conjugation and omega oxidation.
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
TLDR
A new method for screening IEM using GC/MS, which enables accurate chemical diagnoses through urinary analyses with a simple practical procedure, and is quite comprehensive and different from conventional GC/ MS organic acidemia screening procedures, which are not well-suited to detect metabolic disorders except organic acidurias.
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