Organic Acids in the Second Morning Urine in a Healthy Swiss Paediatric Population

Boulat, Olivier; Gradwohl, Marianne; Matos, Vera; Guignard, Jean‐Pierre; Bachmann, C.

doi:10.1515/cclm.2003.248

Cited by 26 publications

(24 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The results are consistent with previously proposed reference intervals that had been obtained on second morning urine from a ''healthy population'' [Boulat et al, 2003]. Differences may reflect distinct metabolic states that are likely to occur in these different clinical settings.…”

Section: Biochemical and Molecular Investigationssupporting

confidence: 90%

See 1 more Smart Citation

Clinical and biochemical heterogeneity associated with fumarase deficiency

et al. 2011

View full text Add to dashboard Cite

Fumarase deficiency (FD), caused by biallelic alteration of the Fumarase Hydratase gene (FH), and a rare metabolic disorder that affects the Krebs cycle, causes severe neurological impairment and fumaric aciduria. Less than 30 unrelated cases are known to date. In addition, heterozygous mutations of the FH gene are responsible for hereditary leiomyomatosis and renal cell cancer (HLRCC). We report three additional patients with dramatically different clinical presentations of FD and novel missense mutations in the FH gene. One patient had severe neonatal encephalopathy, polymicrogyria, <1% enzyme activity, and mildly increased levels of urinary fumarate. The second patient had microcephaly, mental retardation, 20% of fumarase activity, and intermediate levels of urinary fumarate. The third patient had mild mental retardation, polymicrogyria, 42-61% enzyme activity in different cell types and massive amounts of urinary fumarate. In silico analysis predicted minor yet significant structural changes in the encoded proteins. The nuclear translocation of hypoxia-inducible factor (HIF)-1alpha (HIF1A) in cultured fibroblasts was similar to controls. These results extend the range of clinical and biochemical variation associated with FD, supporting the notion that patients with moderate increases in fumarate excretion should be investigated for this disease. The tumoral risk in the patients and their relatives requires adequate screening protocols.

show abstract

Section: Biochemical and Molecular Investigationssupporting

confidence: 90%

“…Subsequent tests for single patients are connected by straight lines. Control 95% upper limits from our ''hospital population'' are given by the s-shaped black line that runs through the graph; control 95% upper limits in a nonhospital setting [Boulat et al, 2003] are given by the white line (see Methods).…”

Section: Biochemical and Molecular Investigationsmentioning

confidence: 99%

Clinical and biochemical heterogeneity associated with fumarase deficiency

et al. 2011

View full text Add to dashboard Cite

show abstract

“…The excretion of metabolites were higher in younger age groups decreased at an intermediate age and then increased in older age groups. There was a significant difference found in the excretion of methylmalonic acid in our study in comparison with other studies concerned [5,13]. The higher reference range of this metabolite may be due to dietary deficiency; moreover amino acid breakdown may play a role, protein intake being insufficient in our pediatric population [15].…”

Section: Discussioncontrasting

confidence: 63%

Urinary Organic Acids Quantitated in a Healthy North Indian Pediatric Population

et al. 2014

View full text Add to dashboard Cite

Human urine gives evidence of the metabolism in the body and contains numerous organic acids and other compounds at a variety of concentration. The concentration of organic acids in urine varies from population to population due to genotype, food habits and other epigenetic and environmental influences. Knowledge of the reference values for urinary organic acids in a healthy pediatric population is very important for critical evaluation. This study was designed to quantify 16 organic acids in a healthy north Indian pediatric population. Early morning urine samples from healthy pediatric subjects of age 1 day to 16 years who did not have symptoms of any disease were analyzed for organic acid content. The children were not on any supplemental vitamins or drugs and were on a free and unrestricted diet. The creatinine concentration of each sample was determined before organic acid analysis. Organic acids were extracted from urine with ethyl acetate, extracted residue was air dried, converted into trimethylsilyl derivatives and analysed by gas chromatography mass spectrometry. Here we reported the age wise mean values and standard deviations for each compound, adjusted for creatinine content (mmol/mol of creatinine). We found the concentration of most of the metabolites are higher in our population in comparison to other populations. Such data may help to provide a basis for diagnosing metabolic abnormalities in patients in a specific ethnicity.

show abstract

“…At least one quantitative value for urinary or serum methylmalonic acid was available for 100 of these 229 patients and the values ranged from 8 to 1915 µmol/mmol creatinine (urine) (mean=279.7, n=74) and from 73 to 47,900 nmoles/L (plasma) (mean= 4894.3, n=37). Methylmalonic acid levels are dependent on age in the general population with a median value of 1.1 µmol/mmol creatinine in the infants under 30 days, 5.2 µmol/mmol creatinine in those 1 to 6 months, and 0.8 µmol/mmol creatinine in those 6 to12 months (Boulat et al, 2003). Unrelated CEPH controls were used in the sequencing studies and control fibroblast lines MCH23 and MCH64 were used in biochemical testing.…”

Section: Patients and Controlsmentioning

confidence: 99%

Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)

et al. 2007

View full text Add to dashboard Cite

Methylmalonic aciduria is known to result from defects in the enzyme methylmalonyl CoA mutase (MCM) (mut complementation group) and from defects in the synthesis of the MCM cofactor adenosylcobalamin (cblA, cblB, cblC, cblD, and cblF groups). Two patients who excrete methylmalonic acid have recently been shown to have a homozygous nonsense mutation in the gene coding for methylmalonyl CoA epimerase (MCEE). To further understand the cause of methylmalonic acid excretion, the MCEE gene was sequenced in 229 patients with elevations of methylmalonic acid excretion for which no cause was known. Mutations in MCEE were detected in five patients: two patients homozygous for c.139C>T, p.R47X, one patient homozygous for c.178A>C, p.K60Q, and two patients heterozygous for c.427C>T, p.R143C. Fusion of fibroblast lines from two patients homozygous for c.139C>T, p.R47X did not result in correction of [ 14 C]propionate incorporation toward control values while the defect in these fibroblasts was complemented by mut, cblA, and cblB fibroblasts. Infection with wild-type MCEE cDNA resulted in correction of the biochemical phenotype in cells from both patients.

show abstract

Organic Acids in the Second Morning Urine in a Healthy Swiss Paediatric Population

Cited by 26 publications

References 8 publications

Clinical and biochemical heterogeneity associated with fumarase deficiency

Clinical and biochemical heterogeneity associated with fumarase deficiency

Urinary Organic Acids Quantitated in a Healthy North Indian Pediatric Population

Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)

Contact Info

Product

Resources

About