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Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome.
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.
Gas chromatographic–mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples
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.
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X
A new patient with HHH syndrome is reported, a 52-year-old woman, who had the typical clinical features, except for an absence of mental retardation, suggesting that this is a common mutation in Japanese patients with H HH syndrome.
Gas chromatographic‐mass spectrometric metabolic profiling of patients with fatal infantile mitochondrial myopathy with de Toni‐Fanconi‐Debré syndrome
The metabolic profiles of three patients with fatal infantile mitochondrial myopathy with de Toni‐Fanconi‐Debré syndrome were studied by simultaneous analysis, after urease treatment of urinary organic acids, carbohydrates, polyols and amino acids using gas chromatography/mass spectrometry, suggesting that chemical diagnosis may be done presymptomatically.
Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency.
It was shown that patients with E3 deficiency who were suspected to have atypical maple syrup urine disease or chronic lactic acidosis can be rapidly identified by GC/MS analysis of urinary acids.