scholarly journals A Severe Neonatal Argininosuccinic Aciduria Case Investigated by 1H NMR Spectroscopy

2020 ◽  
Vol 71 (3) ◽  
pp. 210-218
Author(s):  
Romana Vulturar ◽  
Adina Chis ◽  
Melinda Baizat ◽  
Angela Cozma ◽  
Ramona Suharoschi ◽  
...  
Keyword(s):  
Nmr Spectroscopy ◽  
1H Nmr ◽  
Inborn Error ◽  
1H Nmr Spectroscopy ◽  
Urine Analysis ◽  
Clinical State ◽  
Metabolic Pattern ◽  
Biochemical Diagnosis ◽  
Argininosuccinic Aciduria ◽  
High Concentrations

The NMR urine analysis of a term newborn with severe general deterioration of the clinical state revealed the presence in high concentrations of orotic and argininosuccinic acids. The newborn was suspected for an intoxication-like inborn error of metabolism, and the urine samples were followed up by NMR spectroscopy for several days in order to assess the metabolic pattern. The identified markers led to a definitive biochemical diagnosis of argininosuccinic aciduria.

scholarly journals A Severe Neonatal Argininosuccinic Aciduria Case Investigated by 1H NMR Spectroscopy

2001 ◽  
Vol 71 (3) ◽  
pp. 210-218
Author(s):  
Romana Vulturar ◽  
Adina Chis ◽  
Melinda Baizat ◽  
Angela Cozma ◽  
Ramona Suharoschi ◽  
...  
Keyword(s):  
Nmr Spectroscopy ◽  
1H Nmr ◽  
Inborn Error ◽  
1H Nmr Spectroscopy ◽  
Urine Analysis ◽  
Clinical State ◽  
Metabolic Pattern ◽  
Biochemical Diagnosis ◽  
Argininosuccinic Aciduria ◽  
High Concentrations

The NMR urine analysis of a term newborn with severe general deterioration of the clinical state revealed the presence in high concentrations of orotic and argininosuccinic acids. The newborn was suspected for an intoxication-like inborn error of metabolism, and the urine samples were followed up by NMR spectroscopy for several days in order to assess the metabolic pattern. The identified markers led to a definitive biochemical diagnosis of argininosuccinic aciduria.

scholarly journals Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study

1999 ◽  
Vol 45 (4) ◽  
pp. 459-464 ◽  
Author(s):  
Sytske H Moolenaar ◽  
Jo Poggi-Bach ◽  
Udo FH Engelke ◽  
Jacqueline MB Corstiaensen ◽  
Arend Heerschap ◽  
...  
Keyword(s):  
Nmr Spectroscopy ◽  
1H Nmr ◽  
Inborn Error ◽  
1H Nmr Spectroscopy ◽  
13C Nmr Spectroscopy ◽  
Inborn Error Of Metabolism ◽  
Gas Chromatography Mass Spectrometry ◽  
High Concentration ◽  
History Of

Abstract Background: A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition. Methods: We used 1H NMR spectroscopy to study serum and urine from the patient. Results: The concentration of N,N-dimethylglycine (DMG) was increased ∼100-fold in the serum and ∼20-fold in the urine. The presence of DMG as a storage product was confirmed by use of 13C NMR spectroscopy and gas chromatography–mass spectrometry. The high concentration of DMG was caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH). A homozygous missense mutation was found in the DMGDH gene of the patient. Conclusions: DMGDH deficiency must be added to the differential diagnosis of patients complaining of a fish odor. This deficiency is the first inborn error of metabolism discovered by use of in vitro 1H NMR spectroscopy of body fluids.

Asymetrical Dimer - allyl-palladiu Complexes II. Data from Infrared Spectra and Chemical Behaviour

2008 ◽  
Vol 59 (7) ◽  
Author(s):  
Maria Maganu ◽  
Filip Chiraleu ◽  
Constantin Draghici ◽  
Gheorghe Mihai
Keyword(s):  
Carbon Monoxide ◽  
Nmr Spectroscopy ◽  
1H Nmr ◽  
Infrared Spectra ◽  
Analytical Methods ◽  
1H Nmr Spectroscopy ◽  
Chemical Behaviour ◽  
The Asymmetry ◽  
Pd Complexes

The previous data obtained by 1H-NMR spectroscopy established the existence of an asymmetry of the bond between Pd and p-allylic groups, even in the p-allyl-Pd complexes dimers which are considered usually symmetric dimers. The asymmetry of the bond depends by the substitutes of the allylic group. Other analytical methods were investigated for additional proof of the obtained results. Thus, this paper discusses how this asymmetry would be reflected in the infrared spectra and in the reaction of the complexes with carbon monoxide.

Diastereoselective Reduction of Selected α-substituted β-keto Esters and the Assignment of the Relative Configuration by 1H-NMR Spectroscopy

2020 ◽  
Vol 07 ◽  
Author(s):  
Christian Trapp ◽  
Corinna Schuster ◽  
Chris Drewniok ◽  
Dieter Greif ◽  
Martin Hofrichter
Keyword(s):  
Nmr Spectroscopy ◽  
1H Nmr ◽  
1H Nmr Spectroscopy ◽  
Selective Reduction ◽  
Reducing Agents ◽  
Relative Configuration ◽  
Curtius Rearrangement ◽  
Keto Esters ◽  
Hydroxy Esters ◽  
Diastereoselective Reduction

Background:: Chiral β-hydroxy esters and α-substituted β-hydroxy esters represent versatile building blocks for pheromones, β-lactam antibiotics and 1,2- or 1,3-aminoalcohols. Objective:: Synthesis of versatile α-substituted β-keto esters and their diastereoselective reduction to the corresponding syn- or anti-α-substituted β-hydroxy esters. Assignment of the relative configuration by NMR-spectroscopy after a CURTIUS rearrangement of α-substituted β-keto esters to 4-substituted 5-methyloxazolidin-2-ones. Method:: Diastereoselective reduction was achieved by using different LEWIS acids (zinc, titanium and cerium) in combination with complex borohydrides as reducing agents. Assignment of the relative configuration was verified by 1H-NMR spectroscopy after CURTIUS-rearrangement of α-substituted β-hydroxy esters to 4-substituted 5-methyloxazolidin-2-ones. Results:: For the syn-selective reduction, titanium tetrachloride (TiCl4) in combination with a pyridine-borane complex (py BH3) led to diastereoselectivities up to 99% dr. High anti-selective reduction was achieved by using cerium trichloride (CeCl3) and steric hindered reducing agents such as lithium triethylborohydride (LiEt3BH). After CURTIUS-rearrangement of each α-substituted β-hydroxy ester to the corresponding 4-substituted 5-methyloxazolidin-2-one, the relative configuration was confirmed by 1H NMR-spectroscopy. Conclusion:: We have expanded the procedure of LEWIS acid-mediated diastereoselective reduction to bulky α-substituents such as the isopropyl group and the electron withdrawing phenyl ring.

Conformational study on ribonucleoside O-phosphonylmethyl derivatives by 1H NMR spectroscopy

1985 ◽  
Vol 50 (8) ◽  
pp. 1899-1905 ◽  
Author(s):  
Milena Masojídková ◽  
Jaroslav Zajíček ◽  
Miloš Buděšínský ◽  
Ivan Rosenberg ◽  
Antonín Holý
Keyword(s):  
Nmr Spectroscopy ◽  
1H Nmr ◽  
1H Nmr Spectroscopy ◽  
Conformational Study ◽  
H Nmr ◽  
Conformational Properties

Conformational properties of ribonucleoside 5'-O-phosphonylmethyl derivatives have been determined by 1H NMR spectroscopy and compared with those of natural nucleosides and 5'-nucleotides.

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