RESUMEN
Polioencephalomalacia was diagnosed in 2 animals from different farms. In apparently healthy animals from same farms, fecal thiaminase and a significant reduction in erythrocyte trans-ketolase activity was observed. The presence of thiaminase in Amaranthus blitoides could have contributed to the development of polioencephalomalacia in sheep grazing on natural pastures.
Asunto(s)
Amaranthus/envenenamiento , Encefalomalacia/veterinaria , Intoxicación por Plantas/veterinaria , Enfermedades de las Ovejas/diagnóstico , Amaranthus/enzimología , Alimentación Animal , Animales , Encefalomalacia/diagnóstico , Encefalomalacia/enzimología , Resultado Fatal , Heces/química , Heces/enzimología , Contaminación de Alimentos , Hidrolasas/metabolismo , Intoxicación por Plantas/enzimología , Intoxicación por Plantas/etiología , Poaceae , Ovinos , Enfermedades de las Ovejas/enzimología , Enfermedades de las Ovejas/etiología , España , Deficiencia de Tiamina/complicaciones , Deficiencia de Tiamina/etiología , Deficiencia de Tiamina/veterinaria , Transcetolasa/metabolismoRESUMEN
The defective activation of pyruvate dehydrogenase complex (PDHC) in Leigh's disease (subacute necrotizing encephalomyelopathy) could be due to deficiency of pyruvate dehydrogenase phosphate (PDHb) phosphatase (EC 3.1.3.43). This enzyme catalyzes the dephosphorylation and activation of phospho-PDHC. In cultured skin fibroblasts, we assayed this enzyme by measuring the rate of activation of the exogenously added, purified phospho-PDHC (bovine kidney). PDHb phosphatase activity did not differ significantly among normal control cells, Leigh's lines, spinocerebellar ataxias, or other neurologic disorders. The results do not support the idea that PDHb phosphatase is deficient in Leigh's disease.
Asunto(s)
Encefalomalacia/enzimología , Fosfoproteínas Fosfatasas/deficiencia , Piruvato Deshidrogenasa (Lipoamida)-Fosfatasa/deficiencia , Animales , Bovinos , Fibroblastos/enzimología , Humanos , Necrosis , Piruvato Deshidrogenasa (Lipoamida)-Fosfatasa/metabolismoRESUMEN
Three flocks in which in with one of more sheep had succumbed to polioencephalomalacia (cerebrocortical necrosis) were used for faecal thiaminase studies. Up to one third of the clinically normal animals in these flocks to be excreting thiaminase on any one day and over half the flock could be thiaminase excretors at some time during an outbreak. The possible detrimental effects of sub-clinical thiamine antagonism in sheep are therefore worthy of consideration. Thiaminase excretion by individual animals was variable and sometimes intermittent. It was unaffected by changes in diet, pasture or enviroment. In two of the flocks multiple cases of polioencephalomalacia followed the administration of the anthelmintics, levamisole hydrochloride and thiabendazole. This aspect merits further investigation in view of the widespread use of anthelmintics of this type, especially as the profuse diarrhoea which can be associated with outbreaks of polioencephalomalacia may be wrongly attributed to gastro-intestinal parasitism.
Asunto(s)
Encefalomalacia/veterinaria , Heces/enzimología , Enfermedades de las Ovejas/enzimología , Transferasas/metabolismo , Transferasas Alquil y Aril , Alimentación Animal , Animales , Diarrea/enzimología , Diarrea/veterinaria , Brotes de Enfermedades/veterinaria , Encefalomalacia/enzimología , Femenino , Hordeum , Levamisol/uso terapéutico , Masculino , Infecciones por Nematodos/tratamiento farmacológico , Infecciones por Nematodos/veterinaria , Piridinas , Rumen/enzimología , Ovinos , Enfermedades de las Ovejas/tratamiento farmacológico , Tiabendazol/uso terapéutico , TiaminaRESUMEN
Catalase-like activity was determined in the cerebrospinal fluid of 16 patients with cerebral haemorrhage, 24 cases od encephalomalacia due to thrombosis, and 10 controls. It was demonstrated that catalase-like activity in the cerebrospinal fluid of patients with cerebral stroke is significantly raised in relation to the activity observed in controls. This rise is patricularly evident in the first 24 hours after the onset. The rise was statistically significant only in the group of encephalomalacia.
Asunto(s)
Catalasa/líquido cefalorraquídeo , Trastornos Cerebrovasculares/enzimología , Hemorragia Cerebral/enzimología , Trastornos Cerebrovasculares/líquido cefalorraquídeo , Encefalomalacia/enzimología , Encefalomalacia/etiología , Humanos , Embolia y Trombosis Intracraneal/complicacionesRESUMEN
Sulfite oxidase is a mitochondrial enzyme encoded by the SUOX gene and essential for the detoxification of sulfite which results mainly from the catabolism of sulfur-containing amino acids. Decreased activity of this enzyme can either be due to mutations in the SUOX gene or secondary to defects in the synthesis of its cofactor, the molybdenum cofactor. Defects in the synthesis of the molybdenum cofactor are caused by mutations in one of the genes MOCS1, MOCS2, MOCS3 and GEPH and result in combined deficiencies of the enzymes sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase. Although present in many ethnic groups, isolated sulfite oxidase deficiency and molybdenum cofactor deficiency are rare inborn errors of metabolism, which makes awareness of key clinical and laboratory features of affected individuals crucial for early diagnosis. We report clinical, radiologic, biochemical and genetic data on a Brazilian and on a Turkish child with sulfite oxidase deficiency due to the isolated defect and impaired synthesis of the molybdenum cofactor, respectively. Both patients presented with early onset seizures and neurological deterioration. They showed no sulfite oxidase activity in fibroblasts and were homozygous for the mutations c.1136A>G in the SUOX gene and c.667insCGA in the MOCS1 gene, respectively. Widely available routine laboratory tests such as assessment of total homocysteine and uric acid are indicated in children with a clinical presentation resembling that of hypoxic ischemic encephalopathy and may help in obtaining a tentative diagnosis locally, which requires confirmation by specialized laboratories.
Asunto(s)
Coenzimas/deficiencia , Encefalomalacia/enzimología , Encefalomalacia/patología , Enfermedades del Recién Nacido/enzimología , Enfermedades del Recién Nacido/etiología , Metaloproteínas/deficiencia , Convulsiones/etiología , Sulfito-Oxidasa/deficiencia , Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Errores Innatos del Metabolismo de los Aminoácidos/genética , Brasil , Coenzimas/genética , Análisis Mutacional de ADN , Diagnóstico Diferencial , Encefalomalacia/etiología , Encefalomalacia/genética , Femenino , Humanos , Recién Nacido , Enfermedades del Recién Nacido/genética , Enfermedades del Recién Nacido/patología , Metaloproteínas/genética , Cofactores de Molibdeno , Pteridinas , Convulsiones/complicaciones , Sulfito-Oxidasa/genética , TurquíaAsunto(s)
Arterias Cerebrales/patología , Encefalomalacia/patología , Ácidos Linoleicos , Deficiencia de Vitamina E/complicaciones , Fosfatasa Ácida/análisis , Animales , Capilares/patología , Cerebelo/patología , Arterias Cerebrales/enzimología , Pollos , Modelos Animales de Enfermedad , Encefalomalacia/inducido químicamente , Encefalomalacia/enzimología , Encefalomalacia/etiología , Histocitoquímica , Microscopía Electrónica , Microscopía FluorescenteAsunto(s)
Tronco Encefálico/metabolismo , Encefalomalacia/tratamiento farmacológico , Formiatos/uso terapéutico , Tiamina/uso terapéutico , Peso Corporal , Encefalomalacia/complicaciones , Encefalomalacia/enzimología , Encefalomalacia/genética , Encefalomalacia/metabolismo , Humanos , Lactante , Discapacidad Intelectual , Masculino , Necrosis , Trastornos Psicomotores , Insuficiencia Respiratoria/complicaciones , Insuficiencia Respiratoria/tratamiento farmacológico , Tiamina/administración & dosificación , Tiamina/sangre , Tiamina/líquido cefalorraquídeo , Tiamina/metabolismoAsunto(s)
Tronco Encefálico/enzimología , Encefalomalacia/enzimología , Fosfotransferasas/antagonistas & inhibidores , Isótopos de Carbono , Encefalomalacia/genética , Eritrocitos/enzimología , Femenino , Humanos , Lactante , Discapacidad Intelectual/enzimología , Lactatos/sangre , Leucocitos/metabolismo , Trastornos Psicomotores/enzimología , Tiamina Pirofosfato/metabolismo , Transferasas/sangreAsunto(s)
Tronco Encefálico/enzimología , Encefalomalacia/orina , Tronco Encefálico/metabolismo , Encefalomalacia/enzimología , Encefalomalacia/genética , Encefalomalacia/metabolismo , Heterocigoto , Humanos , Discapacidad Intelectual/genética , Discapacidad Intelectual/metabolismo , Discapacidad Intelectual/orina , Fosfotransferasas/metabolismo , Trastornos Psicomotores/genética , Trastornos Psicomotores/metabolismo , Trastornos Psicomotores/orina , Síndrome/genética , Síndrome/metabolismo , Síndrome/orina , Tiamina Pirofosfato/metabolismoAsunto(s)
Aspartato Aminotransferasas/sangre , Creatina Quinasa/sangre , Encefalomalacia/enzimología , Distrofias Musculares/enzimología , Enfermedades de las Ovejas/enzimología , Animales , Encefalomalacia/veterinaria , Cinética , Distrofia Muscular Animal , Ovinos , Enfermedades de las Ovejas/sangreAsunto(s)
Enfermedades de los Bovinos/enzimología , Encefalomalacia/veterinaria , Enfermedades de las Ovejas/enzimología , Transferasas/aislamiento & purificación , Transferasas Alquil y Aril , Animales , Bovinos , Encefalomalacia/enzimología , Heces/enzimología , Concentración de Iones de Hidrógeno , Peso Molecular , Piridinas , Rumen/enzimología , Ovinos , Tiamina , Deficiencia de Tiamina/enzimología , Deficiencia de Tiamina/veterinariaAsunto(s)
Encefalomalacia/veterinaria , Intoxicación por Plantas/veterinaria , Rumen/enzimología , Enfermedades de las Ovejas/enzimología , Tiamina/metabolismo , Transferasas/metabolismo , Alimentación Animal , Animales , Antihelmínticos/farmacología , Bovinos/metabolismo , Encefalomalacia/enzimología , Heces/enzimología , Femenino , Cabras/metabolismo , Caballos/metabolismo , Masculino , Niacinamida/farmacología , Ácidos Nicotínicos/farmacología , Intoxicación por Plantas/enzimología , Ovinos/metabolismo , Tiamina/farmacología , Tiamina Pirofosfato/farmacología , Tranquilizantes/farmacología , Transcetolasa/sangreAsunto(s)
Enfermedades de los Bovinos/enzimología , Encefalomalacia/veterinaria , Enfermedades de las Ovejas/enzimología , Animales , Aspartato Aminotransferasas/sangre , Bovinos , Encefalomalacia/enzimología , Encefalomalacia/metabolismo , Fructosa-Bifosfato Aldolasa/sangre , Gluconeogénesis , Glutatión Reductasa/sangre , Glucólisis , Isocitrato Deshidrogenasa/sangre , L-Lactato Deshidrogenasa/sangre , Lactatos/sangre , Piruvato Quinasa/sangre , Piruvatos/sangre , OvinosAsunto(s)
Bacillus/enzimología , Encefalomalacia/veterinaria , Enfermedades de las Ovejas/enzimología , Ovinos/microbiología , Transferasas/metabolismo , Animales , Bacillus/crecimiento & desarrollo , Bacillus/aislamiento & purificación , Medios de Cultivo , Encefalomalacia/enzimología , Heces/enzimología , Heces/microbiología , Femenino , Rumen/enzimología , Rumen/microbiología , Enfermedades de las Ovejas/microbiología , TiaminaAsunto(s)
Catalasa/sangre , Trastornos Cerebrovasculares/enzimología , Adulto , Catalasa/líquido cefalorraquídeo , Catalasa/metabolismo , Hemorragia Cerebral/enzimología , Trastornos Cerebrovasculares/sangre , Encefalomalacia/enzimología , Eritrocitos/enzimología , Humanos , Hígado/enzimología , Persona de Mediana Edad , Oxidación-Reducción , Factores de TiempoAsunto(s)
Tronco Encefálico , Encefalomalacia , Factores de Edad , Alanina/metabolismo , Estado de Descerebración/diagnóstico , Electroencefalografía , Encefalomalacia/enzimología , Humanos , Lactante , Discapacidad Intelectual/diagnóstico , Lactatos/sangre , Masculino , Trastornos Psicomotores/diagnóstico , Piruvatos/sangre , Piruvatos/metabolismo , Factores SexualesAsunto(s)
Aspartato Aminotransferasas/sangre , Enfermedades del Sistema Nervioso/enzimología , Adolescente , Adulto , Anciano , Aspartato Aminotransferasas/líquido cefalorraquídeo , Neoplasias Encefálicas/enzimología , Trastornos Cerebrovasculares/enzimología , Encefalomalacia/enzimología , Femenino , Humanos , Embolia y Trombosis Intracraneal/enzimología , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/enzimología , Enfermedades del Sistema Nervioso Periférico/enzimología , Neoplasias de la Médula Espinal/enzimologíaRESUMEN
Erythrocyte transketolase activity and the effect of adding thiamine pyrophosphate (% thiamine pyrophosphate effect) were measured in 111 subjects suspected to suffer from Leigh's disease (subacute necrotising encephalomyelopathy). From clinical evidence these subjects were divided into five groups: (1) necropsy-proved cases of subacute necrotising encephalomyelopathy, (2) cases positive for urinary thiamine pyrophosphate: adenosine triphosphate phosphotransferase inhibitor, (3) clinically likely cases of subacute necrotising encephalomyelopathy (patients still alive, or on whom no necropsy was performed), (4) cases diagnosed as diseases other than subacute necrotising encephalomyelopathy (control group), (5) cases for which no diagnosis had been made. Comparison of erythrocyte transketolase activities with and without added thiamine pyrophosphate and of the % thiamine pyrophosphate effect for each group compared with the control group showed no statistically significant differences from normal values for any of these parameters. Similarly, there were no differences between the two sexes in transketolase activity, and no correlation between transketolase activity and age. These results indicate that erythrocyte transketolase activity is not altered in subacute necrotising encephalomyelopathy and is unlikely to be of value for the diagnosis of Leigh's disease.