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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. Expand
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. Expand
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
TLDR
Urine OA analysis provided a diagnostic clue to other inborn errors of metabolism including amino acid disorders, urea cycle disorders, disorders of carbohydrate metabolism, and mitochondrial fatty acid oxidation disorders. Expand
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence
TLDR
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. Expand
Successful Treatment by Direct Hemoperfusion of Coma Possibly Resulting From Mitochondria1 Dysfunction in Acute Valproate Intoxication
TLDR
The efficacy of direct hemoperfusion for treatment of acute valproate intoxication is evaluated and the biochemical perturbations that suggest a mechanism of coma induced by VPA overdose are speculated on. Expand
Isolated 3-methylcrotonyl-CoA car☐ylase deficiency in a 15-year-old girl
TLDR
This patient is the oldest among reported cases of MCC deficiency who had symptoms at birth, and this case may have the severest sequelae of the longest known natural course of this inborn error of metabolism. Expand
Changes in urinary level and configuration ratio of D-lactic acid in patients with short bowel syndrome.
The present study showed that the D-lactic acid configuration ratio in the urine rose earlier than that in blood or the urinary or blood D-lactic acid levels upon disease onset, and that the D-lacticExpand
Gas chromatographic‐mass spectrometric metabolic profiling of patients with fatal infantile mitochondrial myopathy with de Toni‐Fanconi‐Debré syndrome
TLDR
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. Expand
Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency.
TLDR
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. Expand
Differential chemical diagnosis of primary hyperoxaluria type II. Highly sensitive analysis of optical isomers of glyceric acid by GC/MS as diastereoisomeric derivatives.
TLDR
A separation method for the optical isomers of glyceric acid in urine is established by modifying the derivatization steps of the procedure used for the screening and diagnosis to obtain a differential diagnosis of primary hyperoxaluria type II and d-glyceric Aciduria easily. Expand
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