3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder characterized by a defect in leucine catabolism. We report the case of an 80-day-old patient with 3-methylcrotonyl-CoA carboxylase deficiency who had elevated levels of 3-hydroxyisovalerylcarnitine (45.56 micromol/L; reference range, <0.65 micromol/L), which was detected using tandem mass spectrometry during newborn screening, and elevated levels of 3-hydroxyisovaleric acid (375.75 mmol/mol Cr) and 3-methylcrotonylglycine (502.36 mmol/mol Cr ), which were detected in urine organic acid analysis. We performed direct sequence analysis of all the exons of the MCCC1 and MCCC2 genes. No mutations were detected in the direct sequence analysis of MCCC1. However sequencing of the MCCC2 gene revealed a mutation caused by a heterozygous G to C transversion [c.313G>C (p.Gly105Arg)] at nucleotide position 313 and a mutation caused by a heterozygous A to T transversion [c.1252A>T (p.lle418Phe)] at nucleotide position 1252. Identification of these 2 novel MCCC2 gene mutations in our patient suggested that analysis of the MCCC1 and MCCC2 genes might prove useful in the diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency.
Carnitine ; Exons ; Glycine ; Humans ; Infant, Newborn ; Leucine ; Mass Screening ; Reference Values ; Sequence Analysis ; Tandem Mass Spectrometry ; Valerates

OBJECTIVES: Ovarian hormones have been shown to regulate body weight, intra-abdominal fat accumulation and plasma level of cytokines. The aim of this study was to investigate the effect of estrogen replacement therapy on visceral adipose tissue, plasma level of apelin, lipid profiles, and glucose in ovariectomized (OVX) rats. METHODS: Thirty female Wistar rats were divided into OVX (n = 20) and sham (n = 10) groups. OVX rats were subdivided into estrogen replacement therapy (OVX+est; n = 10) receiving 17 β-estradiol valerates (30 µg/kg, s.c., 5 day/week, for eight weeks), and vehicle control group receiving sesame oil same as experiment group (OVX+ses oil; n = 10). After the treatments, all groups were sacrificed and blood samples were collected, visceral fats were taken from the abdominal cavity and weighed immediately. Apelin were measured using enzyme-linked immunosorbent assay kits. Lipid profiles and glucose were measured using the enzymatic colorimetric method. Data were analyzed with one-way analysis of variance and (P < 0.05) determined as the statistical significance level. RESULTS: After eight weeks, body weight, body mass index (BMI), visceral fat, apelin and lipid profiles (P < 0.01) were increased significantly in OVX rats compared to sham group. Treatment with estrogen leads to significant reduction in body weight and BMI (P < 0.05), there was no significant change in serum apelin level in OVX+est rats compared to OVX+ses. CONCLUSIONS: These results suggest that estradiol replacement therapy successfully attenuated some of the metabolic syndrome components, and apelin does not probably stand as a mediator of these physiological functions.
Abdominal Cavity ; Animals ; Blood Glucose* ; Body Mass Index ; Body Weight ; Cytokines ; Enzyme-Linked Immunosorbent Assay ; Estradiol ; Estrogen Replacement Therapy* ; Estrogens* ; Female ; Glucose ; Humans ; Intra-Abdominal Fat* ; Methods ; Plasma ; Rats* ; Rats, Wistar ; Sesame Oil ; Valerates

No abstract available.
Valproic Acid*

No abstract available.
Animals ; Mice* ; Valproic Acid*

Valproic acid intoxication is a fairly common clinical problem that can result in serious complications. Traditionally the treatment of valproic acid overdose has been limited to supportive measures, but high blood levels may require extracorporeal removal, and publications on this experience are scarce. This case demonstrated continuous veno-venous hemodiafiltration successfully used in patient with severe valproic acid overdose who was hemodynamically unstable.
Hemodiafiltration ; Humans ; Valproic Acid

Polyhydroxyalkanoates (PHA) is a family of microbially synthesized polyesters consisting of various 3-hydroxyalkanoate monomers. Aeromonas hydrophila 4AK4 could be able to synthesize PHA copolymer consisting of 3-hydroxybutyrate (3-HB) and 3-hydroxyhexanoate (3-HHx). No data has been reported about the ability to synthesize the PHA with other monomers in A. hydrophila. In this study, propionic acid, valeric acid, heptanoic acid, nonanoic acid and undecanoic acid were used together with gluconate to find out whether A. hydrophila 4AK4 could synthesize the PHA consisting of odd carbon atom number monomers. The result showed that A. hydrophila 4AK4 could not growth when supplied with propionic acid, valeric acid, heptanoic acid and nonanoic acid and only undecanoic acid could be used to synthesize PHA. Wild type and recombinant A. hydrophila 4AK4 harboring phaA (beta-ketothiolase) and phaB (acetoacetyl-CoA reductase) were cultivated with undecanoic acid and glucose or undecanoic acid and gluconate served as carbon sources. PHA consisting of 3-HB and 3-hydroxyvalerate (3-HV) could be produced by both wild type and recombinant A. hydrophila 4AK4 and the latter could produce PHA with more 3-HB monomer. When the ratio of glucose or gluconate to undecanoic acid was 1:1, the cell dry weight (CDW) of A. hydrophila 4AK4 reached 1.14 g/L and PHA content was 60% of the CDW after cultivation for 24 h. When lauric acid and undecanoic acid were served as co-substrate, A. hydrophila 4AK4 could produce copolyester consisting of 3-HB, 3-HV and 3-HHx. Along with the increase of undecanoic acid proportion in the mixed carbon source, the 3-HV content of copolymer was increased while the 3-HB and 3-HHx content were decreased. In all cases, the CDW decreased along with the increase of undecanoic acid concentration, which indicated that undecanoic acid was not very good for A. hydrophila 4AK4 growth.
Aeromonas hydrophila ; metabolism ; Fatty Acids ; metabolism ; Glucose ; metabolism ; Lauric Acids ; metabolism ; Pentanoic Acids ; metabolism ; Polyhydroxyalkanoates ; biosynthesis

No abstract available.
Bipolar Disorder* ; Hair* ; Valproic Acid*

No abstract available.
Erythema Nodosum* ; Erythema* ; Valproic Acid*

No abstract available.
Bipolar Disorder ; Hair ; Valproic Acid

PURPOSE: Epileptic patients under prolonged treatment with anticonvulsants such as valproate tend to have low serum carnitine level. The object of this study is to observe the interrelationship between anticonvulsants and serum carnitine level and its related symptoms. METHODS: We measured the serum carnitine levels in 31 epileptic patients (18 males, 13 females) receiving diverse antiepileptic drugs and 32 healthy children (20 males, 12 females) using enzymatic cycling method. RESULTS: 1) Among the control group, total, free, and acyl-carnitine in serum were 50.04+/-11.44, 37.42+/-11.13, and 13.98+/-7.49micro mol/L (mean+/-S.D.), respectively, and no significant differences were observed between age and sex. 2) Among 31 patients with treatment, total serum carnitine level and free carnitine level below 2 standard deviation from the mean control value was not observed. 3) Among 31 patients with treatment, total serum carnitine level below 2 standard deviation from the age matched mean control value was not observed. 4) No significant relationship was observed between the serum carnitine level and the dosage, duration and the serum concentration of the antiepileptic drugs. 5) There were no abnormalities in serum AST, ALT levels among the patients treated. CONCLUSION: Although our study didn't reveal that serum carnitine level can be lowered in patients treated with anticonvulsants such as valproate, many others reported it. So periodic measurement of serum carnitine level before and after treatment with anticonvulsants should be considered.
Anticonvulsants* ; Carnitine* ; Child* ; Humans ; Male ; Valproic Acid