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Four-Hydroxyphenylpyruvic Acid Oxidase Deficiency with Normal Fumarylacetoacetase: a New Variant Form of Hereditary Hypertyrosinemia
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.
Metabolism of branched medium chain length fatty acid. II--beta-oxidation of sodium dipropylacetate in rats.
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.
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.
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence
A 23-year-old man with recurrent myoglobinuria had low muscle-free carnitine levels and deficient fasting ketogenesis and Mitochondrial trifunctional protein showed markedly decreased activity in fibroblasts, indicating TP deficiency can be a life-threatening disorder with early infantile onset.
Gas chromatography-mass spectrometric studies of canine urinary metabolism.
After the urine was treated with urease, lyophilized, and trimethylsilylated, it was examined for metabolic profiles in Dalmatian dogs and Shetland sheepdogs by gas chromatography-mass spectrometry
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.
Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction
Restriction of the branched-chain amino acids is worth trying among therapeutic measures for this disease, although restriction of the amino acids alone may not totally prevent progression of neurological disease.