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Literature DB >> 11337323

Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature.

Abstract

SUMMARY: Methylmalonic acidemia is an inborn disorder of amino acid metabolism that commonly presents with neurologic deficits. We present the results of multi-slice proton MR spectroscopy and diffusion-weighted imaging of the brain in two patients with methylmalonic acidemia. The findings consisted of restricted diffusion and elevated lactate in the globi pallidi, compatible with acute infarction (patient 1) and elevated lactate in CSF (patient 2).

Entities: Chemical Disease Gene Species

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Year: 2001 PMID： 11337323 PMCID： PMC8174958

Source DB: PubMed Journal: AJNR Am J Neuroradiol ISSN： 0195-6108 Impact factor: 3.825

8 in total

Review 1. Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production.

Authors: M Wajner; J C Coelho
Journal: J Inherit Metab Dis Date: 1997-11 Impact factor: 4.982

2. Neurological outcome of methylmalonic acidaemia.

Authors: P Nicolaides; J Leonard; R Surtees
Journal: Arch Dis Child Date: 1998-06 Impact factor: 3.791

3. Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria.

Authors: J T Coulombe; V E Shih; H L Levy
Journal: Pediatrics Date: 1981-01 Impact factor: 7.124

4. Production and clearance of lactate from brain tissue, cerebrospinal fluid, and serum following experimental brain injury.

Authors: S Inao; A Marmarou; G D Clarke; B J Andersen; P P Fatouros; H F Young
Journal: J Neurosurg Date: 1988-11 Impact factor: 5.115

5. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia.

Authors: S B van der Meer; F Poggi; M Spada; J P Bonnefont; H Ogier; P Hubert; E Depondt; D Rapoport; D Rabier; C Charpentier
Journal: J Pediatr Date: 1994-12 Impact factor: 4.406

6. Methylmalonic acidaemia with bilateral globus pallidus involvement: a neuropathological study.

Authors: A Larnaout; M A Mongalgi; N Kaabachi; D Khiari; A Debbabi; A Mebazza; M Ben Hamida; F Hentati
Journal: J Inherit Metab Dis Date: 1998-08 Impact factor: 4.982

Review 7. CT and MR of the brain in disorders of the propionate and methylmalonate metabolism.

Authors: J Brismar; P T Ozand
Journal: AJNR Am J Neuroradiol Date: 1994-09 Impact factor: 3.825

8. 1H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis.

Authors: W W Lam; Z J Wang; H Zhao; G T Berry; P Kaplan; J Gibson; B S Kaplan; L T Bilaniuk; J V Hunter; J C Haselgrove; R A Zimmermann
Journal: Neuroradiology Date: 1998-05 Impact factor: 2.804

8 in total

21 in total

Review 1. Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia.

Authors: Daniela R Melo; Alicia J Kowaltowski; Moacir Wajner; Roger F Castilho
Journal: J Bioenerg Biomembr Date: 2011-02 Impact factor: 2.945

2. Lactate dehydrogenase activity is inhibited by methylmalonate in vitro.

Authors: Laura O Saad; Sandra R Mirandola; Evelise N Maciel; Roger F Castilho
Journal: Neurochem Res Date: 2006-05-09 Impact factor: 3.996

3. Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency.

Authors: Lance Harrington Rodan; Navin Mishra; Ivanna Yau; Andrea Andrade; Komudi Siriwardena; Ingrid Tein
Journal: JIMD Rep Date: 2013-02-21

Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature.

Review 1. Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production.

2. Neurological outcome of methylmalonic acidaemia.

3. Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria.

4. Production and clearance of lactate from brain tissue, cerebrospinal fluid, and serum following experimental brain injury.

5. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia.

6. Methylmalonic acidaemia with bilateral globus pallidus involvement: a neuropathological study.

Review 7. CT and MR of the brain in disorders of the propionate and methylmalonate metabolism.

8. 1H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis.

Review 1. Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia.

2. Lactate dehydrogenase activity is inhibited by methylmalonate in vitro.

3. Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency.

Review 4. Metabolic disturbances in diseases with neurological involvement.

5. Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria.

Review 6. In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

7. Increased susceptibility of brain acetylcholinesterase activity to methylmalonate in young rats with renal failure.

8. Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia.

9. Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake.

Review 10. Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature.