Monitoring Methylmalonic Aciduria by NMR Urinomics

Nicolescu, Alina; Daniela, Blăniţă; Boiciuc, Chiril; Hlistun, Victoria; Cristea, Mihaela; Rotaru, Dorina; Pinzari, Ludmila; Oglinda, Ana; Stamati, Adela; Tarcomnicu, Isabela; Tutulan-Cuniţă, Andreea; Stambouli, Danae; Gladun, Sergiu; Revenco, Ninel; Natalia, Uşurelu; Deleanu, Călin

doi:10.3390/molecules25225312

Cited by 8 publications

(14 citation statements)

References 70 publications

(75 reference statements)

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“…As it concerns the NMR methodology in terms of field strength, 400 MHz (9.4 Tesla) magnets have been employed in most of the studies related to the reviewed pathologies [33,[41][42][43][44][45][46][47][49][50][51]54,55,58,71,73], and the results are suitable for the medical diagnosis of these pathologies. One 90 MHz (2.1 Tesla) study was reported [69].…”

Section: Nmr Methodologymentioning

confidence: 99%

“…Nicolescu et al [58] have monitored, by 1 H NMR at 600 MHz (14.1 Tesla), five MMA patients for several months at up to 9-year intervals. A comprehensive set of metabolites have been monitored in their urine.…”

Section: Non-localized Ex Vivo Nuclear Magnetic Resonance Spectroscop...mentioning

confidence: 99%

“…Ranges for another 20 non-specific metabolites have also been published for all five patients, together with control ranges from the literature data. A one-pulse 1 H NMR spectrum with assignments, a JRES and a COSY spectrum from an MMA case are presented as examples [58].…”

Section: Non-localized Ex Vivo Nuclear Magnetic Resonance Spectroscop...mentioning

confidence: 99%

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NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias

Deleanu,

Nicolescu

2024

Biomolecules

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Although both localized nuclear magnetic resonance spectroscopy (MRS) and non-localized nuclear magnetic resonance spectroscopy (NMR) generate the same information, i.e., spectra generated by various groups from the structure of metabolites, they are rarely employed in the same study or by the same research group. As our review reveals, these techniques have never been applied in the same study of methylmalonic acidemia (MMA), propionic acidemia (PA) or vitamin B12 deficiency patients. On the other hand, MRS and NMR provide complementary information which is very valuable in the assessment of the severity of disease and efficiency of its treatment. Thus, MRS provides intracellular metabolic information from localized regions of the brain, while NMR provides extracellular metabolic information from biological fluids like urine, blood or cerebrospinal fluid. This paper presents an up-to-date review of the NMR and MRS studies reported to date for methylmalonic and propionic acidemias. Vitamin B12 deficiency, although in most of its cases not inherited, shares similarities in its metabolic effects with MMA and it is also covered in this review.

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Section: Nmr Methodologymentioning

confidence: 99%

Section: Non-localized Ex Vivo Nuclear Magnetic Resonance Spectroscop...mentioning

confidence: 99%

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NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias

Deleanu,

Nicolescu

2024

Biomolecules

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“…In addition to targeted analysis for the diagnosis or confirmation of IEM, 1 H NMR metabolomic studies are also useful for monitoring the treatment of patients with IEM. Methylmalonic aciduria (OMIM 251000) is a good example that demonstrates how metabolic status can be evaluated, 40 because very different classes of substances can be quantified in one analysis, such as in this case orotic acid, methylmalonic acid, carnitine, glycine, and propionylcarnitine, which are related to the metabolic status of the patient and the severity of the enzyme defect methylmalonyl CoA mutase (OMIM 251000). In this respect other organic acidemias under treatment can also be monitored, such as propionic acidemia, isovaleric acidemia, and others (F.T., personal experiences).…”

Section: General Aspects Of Nmr Analysis In Biological Fluidsmentioning

confidence: 99%

Ex vivo proton spectroscopy (¹H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses

et al. 2022

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There are about 1500 genetic metabolic diseases. A small number of treatable diseases are diagnosed by newborn screening programs, which are continually being developed. However, most diseases can only be diagnosed based on clinical symptoms or metabolic findings. The main biological fluids used are urine, plasma and, in special situations, cerebrospinal fluid. In contrast to commonly used methods such as gas chromatography and high performance liquid chromatography mass spectrometry, ex vivo proton spectroscopy (1H‐NMR) is not yet used in routine clinical practice, although it has been recommended for more than 30 years. Automatic analysis and improved NMR technology have also expanded the applications used for the diagnosis of inborn errors of metabolism. We provide a mini‐overview of typical applications, especially in urine but also in plasma, used to diagnose common but also rare genetic metabolic diseases with 1H‐NMR. The use of computer‐assisted diagnostic suggestions can facilitate interpretation of the profiles. In a proof of principle, to date, 182 reports of 59 different diseases and 500 reports of healthy children are stored. The percentage of correct automatic diagnoses was 74%. Using the same 1H‐NMR profile‐targeted analysis, it is possible to apply an untargeted approach that distinguishes profile differences from healthy individuals. Thus, additional conditions such as lysosomal storage diseases or drug interferences are detectable. Furthermore, because 1H‐NMR is highly reproducible and can detect a variety of different substance categories, the metabolomic approach is suitable for monitoring patient treatment and revealing additional factors such as nutrition and microbiome metabolism. Besides the progress in analytical techniques, a multiomics approach is most effective to combine metabolomics with, for example, whole exome sequencing, to also diagnose patients with nondetectable metabolic abnormalities in biological fluids. In this mini review we also provide our own data to demonstrate the role of NMR in a multiomics platform in the field of inborn errors of metabolism.

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“…Multivariate analysis of NMR spectra from various examples of aged meats allows the method, degree, and doneness of the aging process to be effectively differentiated and the key discriminatory metabolites to be identified. Special attention is given to the investigation of methylmalonic aciduria (MMA) by Nicolescu et al [ 5 ]. They report on monitoring MMA-specific and non-specific metabolites via NMR-based metabolomics and present an extended dataset of targeted metabolites.…”

mentioning

confidence: 99%

Special Issue: NMR-Based Metabolomics

Pérez‐Trujillo

Athersuch

2021

Molecules

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Monitoring Methylmalonic Aciduria by NMR Urinomics

Cited by 8 publications

References 70 publications

NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias

NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias

Ex vivo proton spectroscopy (¹H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses

Special Issue: NMR-Based Metabolomics

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Monitoring Methylmalonic Aciduria by NMR Urinomics

Cited by 8 publications

References 70 publications

NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias

NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias

Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses

Special Issue: NMR-Based Metabolomics

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Ex vivo proton spectroscopy (¹H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses