metabolic brain diseases

Summary

Summary: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.

Top Publications

  1. Moritz M, Ayus J. The pathophysiology and treatment of hyponatraemic encephalopathy: an update. Nephrol Dial Transplant. 2003;18:2486-91 pubmed
  2. Leduc M, Kermorvant Duchemin E, Checchin D, Sennlaub F, Sirinyan M, Kooli A, et al. Hypercapnia- and trans-arachidonic acid-induced retinal microvascular degeneration: implications in the genesis of retinopathy of prematurity. Semin Perinatol. 2006;30:129-38 pubmed
  3. Frey F. [Hyponatraemia in patients with neurosurgical disorders: SIADH or cerebral salt wasting syndrome?]. Ther Umsch. 2009;66:769-72 pubmed publisher
    ..Salt and fluid replacement appears to be indicated in CSWS, whereas fluid restriction might be the primary approach in patients with SIADH...
  4. Reed L, Lasserson D, Marsden P, Stanhope N, Stevens T, Bello F, et al. FDG-PET findings in the Wernicke-Korsakoff syndrome. Cortex. 2003;39:1027-45 pubmed
    ..There was also evidence of a variable degree of more general frontotemporal neocortical hypometabolism on some, but not all, analyses...
  5. Takanashi J, Barkovich A, Cheng S, Weisiger K, Zlatunich C, Mudge C, et al. Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. AJNR Am J Neuroradiol. 2003;24:1184-7 pubmed
    ..We hypothesize that these lesions presumably reflect the distribution of brain injury due to hypoperfusion secondary to hyperammonemia and hyperglutaminemia in the neonatal period...
  6. Juul A, Bernasconi S, Clayton P, Kiess W, DeMuinck Keizer Schrama S. European audit of current practice in diagnosis and treatment of childhood growth hormone deficiency. Horm Res. 2002;58:233-41 pubmed
    ..We have found much conformity but also numerous discrepancies between the recommendations of the Growth Hormone Research Society and the current practice in Europe...
  7. Olpin S. Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults. Clin Lab. 2005;51:289-306 pubmed
    ..Novel treatments include the use of D,L-3-hydroxybutyrate and the potential use of fibrates to increase mutant protein levels in mild disorders...
  8. Sano S, Yamagami K, Morikawa T, Yoshioka K. Myelodysplastic syndrome complicated by central diabetes insipidus and cerebral salt wasting syndrome with peculiar change in magnetic resonance images. Intern Med. 2010;49:161-5 pubmed
    ..Magnetic resonance imaging (MRI) revealed symmetrically enhanced lesions in the hypothalamus. Fludrocortisone treatment normalized his serum sodium level and cerebral salt wasting syndrome (CSWS) was suspected...
  9. Blass J. Brain metabolism and brain disease: is metabolic deficiency the proximate cause of Alzheimer dementia?. J Neurosci Res. 2001;66:851-6 pubmed
    ..Further studies of this possibility and of treatments designed to ameliorate the mitochondrial spiral may prove useful for treating AD and perhaps some other dementing disorders...

More Information

Publications62

  1. Leuzzi V, Di Sabato M, Deodato F, Rizzo C, Boenzi S, Carducci C, et al. Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. Neurology. 2007;68:1320-1 pubmed
  2. Volchegorskii I, Mester N, Zotova O. [Predictors of diabetic encephalopathy]. Zh Nevrol Psikhiatr Im S S Korsakova. 2006;106:12-6 pubmed
    ..An equation of discriminative function that allowed objective assessment of DE diagnosis by clinical and instrumental data was obtained...
  3. Feksa L, Latini A, Rech V, Feksa P, Koch G, Amaral M, et al. Tryptophan administration induces oxidative stress in brain cortex of rats. Metab Brain Dis. 2008;23:221-33 pubmed publisher
  4. Katikireddy C, Kuschner W. Critical care medicine update: essentials for the nonintensivist, part 1. Compr Ther. 2006;32:74-81 pubmed
    ..In Part 1 we review (a) altered states of consciousness and sedation, (b) respiratory failure and ventilators, (c) cardiovascular monitoring and management, and (d) fluid and electrolyte disorders...
  5. Heales S, Crawley F, Rudge P. Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency. Mov Disord. 2004;19:1248-51 pubmed
    ..A reversible deficiency of tetrahydrobiopterin, causing altered dopamine metabolism, is demonstrated as the metabolic basis of this aspect of the encephalopathy...
  6. Ng W, Thompson R, Yablon S, Sherer M. Conceptual dilemmas in evaluating individuals with severely impaired consciousness. Brain Inj. 2001;15:639-43 pubmed
    ..This case illustrates the challenge of rating patients with limited behavioural repertoire using established measures of impaired consciousness...
  7. Hunter J, Wang Z. MR spectroscopy in pediatric neuroradiology. Magn Reson Imaging Clin N Am. 2001;9:165-89, ix pubmed
    ..With the introduction of gene therapy and other new interventions, a noninvasive tool such as MR spectroscopy may prove to be invaluable...
  8. Debray F, Lambert M, Gagne R, Maranda B, Laframboise R, Mackay N, et al. Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. Neuropediatrics. 2008;39:20-3 pubmed publisher
    ..The aim of this study is to report and emphasize unusual presentations of pyruvate dehydrogenase (PDH) deficiency (OMIM 312170)...
  9. Bahi Buisson N, Eisermann M, Nivot S, Bellanne Chantelot C, Dulac O, Bach N, et al. Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2. J Child Neurol. 2007;22:1147-50 pubmed
    ..However, the child still exhibited severe encephalopathy and died of aspiration pneumonia. The role of oral sulfonylurea as an anticonvulsant in DEND syndrome associated with Kir6.2 mutation is discussed...
  10. Ardalan M, Pourafkari L, Tubbs R, Shoja M. Hypophosphatemic encephalopathy in a CAPD patient. Am J Med Sci. 2008;335:492-4 pubmed publisher
    ..Further investigation revealed an adynamic bone disease. The potential factors precipitating this episode of hypophosphatemia are discussed...
  11. Periasamy V, Rudwan M, Yadav G, Khan R. Epilepsy in a young adult caused by L-2-hydroxyglutaric aciduria: a case report. Med Princ Pract. 2008;17:258-61 pubmed publisher
    ..To report the importance of a rare organic acid metabolic disorder, L-2-hydroxyglutaric aciduria, and its characteristic neuroimaging cerebral white matter abnormalities in a case of epilepsy...
  12. Nagara H, Yajima K, Suzuki K. The effect of copper supplementation on the brindled mouse: a clinico-pathological study. J Neuropathol Exp Neurol. 1981;40:428-46 pubmed
  13. Del Bo R, Moggio M, Rango M, Bonato S, D Angelo M, Ghezzi S, et al. Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology. 2008;71:1959-66 pubmed publisher
    ..Complex phenotypes have been described in association with MFN2 gene mutations, including CMT2 with pyramidal features (hereditary motor and sensory neuropathy [HSMN V]) and CMT2 with optic atrophy (HMSN VI)...
  14. Maramattom B, Manno E, Wijdicks E, Lindell E. Gadolinium encephalopathy in a patient with renal failure. Neurology. 2005;64:1276-8 pubmed
    ..An unusual MRI appearance with CSF hyperintensity due to gadolinium diffusion into the CSF is also shown...
  15. Moechars D, Lorent K, De Strooper B, Dewachter I, Van Leuven F. Expression in brain of amyloid precursor protein mutated in the alpha-secretase site causes disturbed behavior, neuronal degeneration and premature death in transgenic mice. EMBO J. 1996;15:1265-74 pubmed
    ..The data demonstrate that incomplete or incorrect alpha-secretase processing of APP results in severe neurotoxicity and that this effect is expressed in a dominant manner...
  16. Kaplan P. EEG criteria for nonconvulsive status epilepticus. Epilepsia. 2007;48 Suppl 8:39-41 pubmed
  17. Fountain N, Waldman W. Effects of benzodiazepines on triphasic waves: implications for nonconvulsive status epilepticus. J Clin Neurophysiol. 2001;18:345-52 pubmed
    ..This also implies that gamma-aminobutyric acid neurotransmission is important in the expression of TW...
  18. Robertson N, Lewis R, Cowan F, Allsop J, Counsell S, Edwards A, et al. Early increases in brain myo-inositol measured by proton magnetic resonance spectroscopy in term infants with neonatal encephalopathy. Pediatr Res. 2001;50:692-700 pubmed
  19. Fernández Torre J. Re: Triphasic waves versus nonconvulsive status epilepticus: EEG distinction. Can J Neurol Sci 2006;33:175-80. Can J Neurol Sci. 2006;33:433-4 pubmed
  20. Sempere A, Fons C, Arias A, Rodríguez Pombo P, Merinero B, Alcaide P, et al. [Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]. Med Clin (Barc). 2009;133:745-9 pubmed publisher
    ..We present the first three Spanish patients with GAMT deficiency, and we compare their clinical phenotype and treatment response with other published cases...
  21. Heikkinen J, Kaakinen T, Dahlbacka S, Kiviluoma K, Salomäki T, Laurila P, et al. Aprotinin to improve cerebral outcome after hypothermic circulatory arrest: a study in a surviving porcine model. Heart Surg Forum. 2006;9:E719-24 pubmed
    ..There is evidence that aprotinin has neuroprotective effects during ischemia. We planned this study to evaluate its potential neuroprotective efficacy during hypothermic circulatory arrest (HCA)...
  22. Momoo T, Johkura K, Kuroiwa Y. Spike-wave stupor in a patient with metabolic disorder. J Clin Neurosci. 2006;13:301-3 pubmed
    ..Therefore, even in the presence of a clearly defined metabolic disorder, triphasic waves on the EEG may not be due to metabolic encephalopathy; they may reflect an epileptic state precipitated by the metabolic disorder...
  23. Liu Y, Lu B, Liu L, Chen X, Liu Y. [Clinical analysis of 73 cases of hypoglycemia with brain dysfunctions]. Di Yi Jun Yi Da Xue Xue Bao. 2005;25:1585-6, 1588 pubmed
    ..To identify the clinical features and pathogenesis of hypoglycemia with brain dysfunctions as the main manifestations...
  24. Kur J, Esdaile J. Posterior reversible encephalopathy syndrome--an underrecognized manifestation of systemic lupus erythematosus. J Rheumatol. 2006;33:2178-83 pubmed
    ..There is a high likelihood of presentation of this syndrome to a rheumatologist...
  25. Gupta R, Jha A, Deshpande S. 3-Nitropropionic acid-induced depression of spinal reflexes does not involve 5-hydroxytryptaminergic system in contrast to ischemia-induced depression in neonatal rat spinal cord in vitro. Neurosci Lett. 2008;446:93-6 pubmed publisher
    ..Thus, 3-NPA-induced depression of spinal reflexes does not involve 5-HTergic pathway unlike ischemia-induced depression...
  26. Shiihara T, Kato M, Hayasaka K. Clinically mild encephalitis/encephalopathy with a reversible splenial lesion. Neurology. 2005;64:1487; author reply 1487 pubmed
  27. Juhasz Pocsine K, Rudnicki S, Archer R, Harik S. Neurologic complications of gastric bypass surgery for morbid obesity. Neurology. 2007;68:1843-50 pubmed
    ..Such procedures are not without complications, and those affecting the nervous system are often disabling and irreversible. We now describe our experience with these complications and review the pertinent literature...
  28. Guerrero R, Pumar A, Soto A, Pomares M, Palma S, Mangas M, et al. Early hyponatraemia after pituitary surgery: cerebral salt-wasting syndrome. Eur J Endocrinol. 2007;156:611-6 pubmed
    ..In this article, we present a case of acute and early hyponatraemia caused by CSWS after pituitary tumour surgery. We also revise the aetiology, mechanisms, differential diagnosis and treatment of hyponatraemia after pituitary surgery...
  29. Ahmed O, El Gareib A, El Bakry A, Abd El Tawab S, Ahmed R. Thyroid hormones states and brain development interactions. Int J Dev Neurosci. 2008;26:147-209 pubmed
    ..Thus, further studies need to be done to emphasize this concept...
  30. Zinnanti W, Lazovic J. Mouse model of encephalopathy and novel treatment strategies with substrate competition in glutaric aciduria type I. Mol Genet Metab. 2010;100 Suppl 1:S88-91 pubmed publisher
  31. Hindawy A, Gouda A, El Ayyadi A, Megahed H, Bazaraa H. Metabolic encephalopathy in Egyptian children. Bratisl Lek Listy. 2007;108:75-82 pubmed
    ..Timely detection of these disorders including screening for MCADD can have a favorable impact on the outcome of these patients (Tab. 11, Fig. 3, Ref. 24) Full Text (Free, PDF)...
  32. Prabhu S, Jacob J, Thomas N. Medical image. Dense bones and brain stones. Carbonic anhydrase-II (CA-II) deficiency. N Z Med J. 2007;120:U2731 pubmed
  33. Brimioulle S, Orellana Jimenez C, Aminian A, Vincent J. Hyponatremia in neurological patients: cerebral salt wasting versus inappropriate antidiuretic hormone secretion. Intensive Care Med. 2008;34:125-31 pubmed
    ..To assess whether hyponatremia in acute neurological patients is associated with the syndrome of inappropriate antidiuretic hormone secretion (SIADH) or with the cerebral salt-wasting syndrome (CSWS)...
  34. Louis E, Zheng W, Applegate L, Shi L, Factor Litvak P. Blood harmane concentrations and dietary protein consumption in essential tremor. Neurology. 2005;65:391-6 pubmed
    ..Whether this difference is due to greater animal protein consumption by patients or their failure to metabolize harmane is unknown...
  35. Waespe W, Vogel Wigger B, Bachli E, Boltshauser E. [Differential diagnostic aspects of progressive spastic paraplegia in adults with emphasis on neurometabolic diseases]. Praxis (Bern 1994). 1995;84:473-7 pubmed
    ..These neuro-metabolic diseases have to be differentiated from other neuro-degenerative diseases like amyotrophic lateral sclerosis and hereditary spastic paraplegias...
  36. Takeda A, Tamano H, Itoh H, Oku N. Attenuation of abnormal glutamate release in zinc deficiency by zinc and Yokukansan. Neurochem Int. 2008;53:230-5 pubmed publisher
    ..The enhanced exocytosis in zinc deficiency is a possible mechanism on abnormal increase in extracellular glutamate in the hippocampus induced with high K(+)...
  37. Brooks J, Hoblyn J, Woodard S, Rosen A, Ketter T. Corticolimbic metabolic dysregulation in euthymic older adults with bipolar disorder. J Psychiatr Res. 2009;43:497-502 pubmed publisher
    ..Persistent corticolimbic dysregulation may be related to residual affective, behavioral, and cognitive symptoms in older patients with bipolar disorder, even when not experiencing syndromal mood disturbance...
  38. Tudela P, Soldevila B, Mòdol J, Domenech E. Hypercalcemic encephalopathy in a patient with hepatocellular carcinoma. Dig Dis Sci. 2007;52:3296-7 pubmed
    ..We present a case of hypercalcemic encephalopathy in a patient with hepatic cirrhosis and underlying HCC in whom first diagnostic was hepatic encephalopathy...
  39. Sommerfield A, Stimson R, Campbell I. Hashimoto's encephalopathy presenting as an acute medical emergency. Scott Med J. 2004;49:155-6 pubmed
    ..The encephalopathy is independent of thyroid hormonal status. Treatment with corticosteroids leads to a prompt resolution of symptoms and long-term low dose steroid therapy prevents further neurological recurrence...
  40. Sánchez Bailén M, Navarro Ciruelos N, Rovira García Marrón R, Angles Coll R. [Cefepime-associated encephalopathy in a patient with septic shock and renal failure]. Rev Clin Esp. 2004;204:501-2 pubmed
  41. Fu X, Rinaldo P, Hahn S, Kodama H, Packman S. Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. J Inherit Metab Dis. 2003;26:55-66 pubmed
    ..Further, our results are consistent with the notion that other unknown copper-related transporters could be involved in diseases...
  42. Meinardi M, van den Berg G, Groenhuijzen A, Driessen J, Maas H, Wolfhagen F. [Metabolic encephalopathy can be a potentially life-threatening complication from valproic acid]. Ned Tijdschr Geneeskd. 2008;152:278-82 pubmed
    ..Elevated levels of ammonia can be found but are not mandatory. Discontinuation of valproic acid will lead to recovery of consciousness...
  43. Misra U, Kalita J, Syam U, Dhole T. Neurological manifestations of dengue virus infection. J Neurol Sci. 2006;244:117-22 pubmed
    ..Paucity of studies on neurological manifestations in dengue virus infection prompted this study. We aim to correlate clinical, radiological and neurophysiological changes in dengue patients with neurological manifestations...
  44. Viola A, Nicoli F, Denis B, Confort Gouny S, Le Fur Y, Ranjeva J, et al. High cerebral scyllo-inositol: a new marker of brain metabolism disturbances induced by chronic alcoholism. MAGMA. 2004;17:47-61 pubmed
    ..Our findings suggest that the accumulation of scyllo-inositol may precede and take part in the development of symptomatic alcoholic metabolic encephalopathy...
  45. Sharma P, Eesa M, Scott J. Toxic and acquired metabolic encephalopathies: MRI appearance. AJR Am J Roentgenol. 2009;193:879-86 pubmed publisher
    ..Imaging can help in narrowing the differential in many cases. We pictorially review the more classic MRI features of several acute toxic and acquired metabolic encephalopathies...
  46. Cole C, Gottfried O, Liu J, Couldwell W. Hyponatremia in the neurosurgical patient: diagnosis and management. Neurosurg Focus. 2004;16:E9 pubmed
  47. Saida S, Yoshida A, Tanaka R, Abe J, Hamahata K, Okumura M, et al. A case of drug-induced hypersensitivity syndrome-like symptoms following HHV-6 encephalopathy. Allergol Int. 2010;59:83-6 pubmed publisher
    ..We report on a case with DIHS-like symptoms following human herpes virus 6 (HHV-6) infection complicated with encephalopathy...
  48. O Neill M, Dubrey R, Grocott Mason R. Valproate encephalopathy and hyperammonaemia. Postgrad Med J. 2002;78:316-7 pubmed
  49. Palmer C. Neurologic manifestations of renal disease. Neurol Clin. 2002;20:23-34, v pubmed
    ..This article includes historical studies of the neurologic complications of acute uremia, now fairly uncommon, and recent literature regarding neurologic side effects associated with dialysis and renal transplantation...
  50. Tan E, Lau N, Yung A. Scleromyxoedema: a cause for unexplained encephalopathy and myositis. Clin Exp Dermatol. 2010;35:746-8 pubmed publisher
    ..Although primarily a cutaneous disease, extracutaneous features of scleromyxoedema may dominate the clinical picture of this rare mucin-deposition disorder...
  51. Bean L, Zheng H, Patel K, Monaghan D. Regional variations in NMDA receptor downregulation in streptozotocin-diabetic rat brain. Brain Res. 2006;1115:217-22 pubmed
    ..These effects on NMDA receptors can potentially explain some of the known CNS effects of diabetes...
  52. Karachaliou F, Simatos G, Batika P, Michalacos S, Kaldrymides P. Endocrine consequences of childhood malignancies. J BUON. 2009;14:27-32 pubmed
    ..Long-term follow-up is indicated, as these disorders may not become apparent until adulthood...
  53. Focosi D, Pelosini M, Palla P, Galimberti S, Caracciolo F, Benedetti E, et al. Hypercytokinemia-induced metabolic encephalopathy in a multiple myeloma patient on hemodialysis undergoing autologous stem cell transplantation: clinical response after plasma exchange. Transpl Immunol. 2009;21:240-3 pubmed publisher
    ..We discuss here the pathogenesis and raise an alert for monitoring cytokine levels in patients with renal failure undergoing high-dose chemotherapy...