Objective: To analyze the levels of methylmalonic acid and methylcitrate in urine, propionylcarnitine (C3) in plasma and C3/acetylcarnitine (C2) of patients with methylmalonic acidemia (MMA) and explore their applications in the diagnosis of MMA.
Methods: From December 2003 to March 2012, a total of 162 patients with MMA (MMA group) and 200 healthy children (control group) of Xinhua Hospital, Shanghai Jiaotong University School of Medicine were recruited. MMA patients with a definite classification were divided into 2 groups: isolate MMA group (n = 51) and MMA complicated with homocysteinemia group (n = 65). Gas chromatography-mass spectrometry was used to measure the urine levels of methylmalonic acid and methylcitrate and tandem mass spectrometry to measure the blood levels of free carnitine (C0), acylcarnitines and methionine (Met).
Results: In the MMA group, the median levels of methylmalonic acid (259.10 (6.73 - 6429.28)), methylcitrate (4.39 (0 - 248.96)), C3 (8.52 (1.50 - 52.11) µmol/L) and C3/C2 (0.73(0.28 - 2.89)) were all higher than the upper limit values (0.2 - 3.6, 0 - 1.1, 0.50 - 4.00 µmol/L and 0.04 - 0.25 respectively). And they were all higher than those in the control group (0 (0 - 1.87), 0.10 (0 - 1.84), 1.40 (0.53 - 3.90) µmol/L, 0.10 (0.04 - 0.23), all P < 0.01). C3/C2 increased significantly in 15 patients while the C3 level remained normal. The median level of Met was normal in the isolate MMA group. But in patients with homocysteinemia, the level of 8.71 (0.68 - 31.95) µmol/L was below the reference value (10.00 - 35.00 µmol/L) and lower than that in the isolate MMA group (15.35 (4.18 - 59.50) µmol/L) and the control group (15.59 (10.20 - 34.68) µmol/L, all P < 0.05).
Conclusions: Significant increases in the urine level of methylmalonic acid and C3/C2 may be specific to MMA. Organic acid analyses of gas chromatography-mass spectrometry and acylcarnitines with tandem mass spectrometry are required for a definite diagnosis of this disorder. And repeated tests and genomic mutation analysis are necessary for patients with mildly abnormal biochemical indices.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Nitrous oxide (NO) is generally used in the medical and food industries. However, it is sometimes illegally misused by young adults as a recreational drug. In either of these uses, functional vitamin B12 deficiency results in neurological implications, such as peripheral neuropathy and subacute combined degeneration (SACD).
View Article and Find Full Text PDFHypertension may lead to cognitive dysfunction in older adults via methylmalonic acid: evidence from NHANES 2011-2014 population.
BMC Geriatr
December 2024
School of Public Health, Zhejiang Chinese Medical University, No.548 Binwen Rd, Hangzhou, Zhejiang, China.
Background: An enriched understanding is necessary concerning the association between hypertension and cognitive impairment in older adults, particularly regarding the potential underlying mechanisms at a biological level. This study aimed to explore the mediating role of methylmalonic acid (MMA) in the hypertension-cognition link in the older population.
Methods: A total of 2762 adults (age > = 60 years) from the National Health and Nutrition Examination Survey (NHANES) 2011-2014 participated.
Effects of 3,4-methylenedioxymethamphetamine on the gut microbiota and metabolites in the small intestine, cecum, and colon of male rats.
Prog Neuropsychopharmacol Biol Psychiatry
December 2024
Chiba University Center for Forensic Mental Health, Chiba 260-8670, Japan. Electronic address:
3,4-Methylenedioxymethamphetamine (MDMA; Ecstasy) is a widely abused recreational drug that has also gained interest for potential clinical applications in mental health. With the growing recognition of gut microbiota's role in mental health, this study examined whether repeated oral MDMA administration could affect gut microbiota in the small intestine, cecum, and colon of male rats. Repeated oral MDMA administration (10 mg/kg/day for 14 days) caused significant changes in the gut microbiota across these regions, with distinct effects observed in each.
View Article and Find Full Text PDFRole of carglumic acid in the long-term management of propionic and methylmalonic acidurias.
Orphanet J Rare Dis
December 2024
Pediatric Unit, Reference Center for Inborn Errors of Metabolism, University Hospital of Nancy, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.
Propionic aciduria (PA) and methylmalonic aciduria (MMA) are rare inherited disorders caused by defects in the propionate metabolic pathway. PA due to propionyl coenzyme A carboxylase deficiency results in accumulation of propionic acid, while in MMA, deficiency in methylmalonyl coenzyme A mutase leads to accumulation of methylmalonic acid. Hyperammonemia is related to a secondary deficiency of N-acetylglutamate (NAG), the activator of carbamoyl phosphate synthetase 1, which is an irreversible rate-limiting enzyme in the urea cycle.
View Article and Find Full Text PDFNitrous Oxide-Induced Vitamin B12 Deficiency and Myelopathy in Whippets Abusers: A Report of Two Cases.
Cureus
November 2024
Neurology, Marshall University Joan C. Edwards School of Medicine, Huntington, USA.
Whippets abuse, prevalent among recreational drug users, poses significant health risks, particularly through the inactivation of vitamin B12 by nitrous oxide (NO). This deficiency can lead to myelopathy, resulting in serious neurological complications. We present two female patients, aged 22 and 35, with a history of regular whippet use over the past three years, who exhibited clinical symptoms of myelopathy, including motor weakness, rigidity, sensory changes, and gait abnormalities.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!