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.
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.
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.
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
Successful Treatment by Direct Hemoperfusion of Coma Possibly Resulting From Mitochondria1 Dysfunction in Acute Valproate Intoxication
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.
Isolated 3-methylcrotonyl-CoA car☐ylase deficiency in a 15-year-old girl
Changes in urinary level and configuration ratio of D-lactic acid in patients with short bowel 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.
- T. Kuhara, T. Shinka, I. Matsumoto
- Biology, MedicineClinica chimica acta; international journal of…
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.
Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia.
- T. Kuhara, T. Shinka, M. Matsuo, I. Matsumoto
- BiologyClinica chimica acta; international journal of…
Metabolic changes dependent upon clinical conditions were studied in an eight-month-old girl with propionyl CoA carboxylase deficiency, and it is suggested that under clinically favorable conditions the patient has an altered propionate metabolism which proceeds via normal acetyl coA metabolism with sufficient capacity for acetylCoA plus propiony CoA metabolism.