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1.
J Vet Intern Med ; 32(2): 853-859, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29424482

RESUMO

BACKGROUND: Zinc deficiency-like (ZDL) syndrome is an inherited defect of Fleckvieh calves, with striking similarity to bovine hereditary zinc deficiency (BHZD). However, the causative mutation in a phospholipase D4 encoding gene (PLD4) shows no connection to zinc metabolism. OBJECTIVES: To describe clinical signs, laboratory variables, and pathological findings of ZDL syndrome and their utility to differentiate ZDL from BHZD and infectious diseases with similar phenotype. ANIMALS: Nine hospitalized calves with crusting dermatitis and confirmed mutation in PLD4 and medical records from 25 calves with crusting dermatitis or suspected zinc deficiency. METHODS: Prospective and retrospective case series. RESULTS: The 9 calves (age: 5-53 weeks) displayed a moderate to severe crusting dermatitis mainly on the head, ventrum, and joints. Respiratory and digestive tract inflammations were frequently observed. Zinc supplementation did not lead to remission of clinical signs in 4 calves. Laboratory variables revealed slight anemia in 8 calves, hypoalbuminemia in 6 calves, but reduced serum zinc concentrations in only 3 calves. Mucosal erosions/ulcerations were present in 7 calves and thymus atrophy or reduced thymic weights in 8 calves. Histologically, skin lesions were indistinguishable from BHZD. Retrospective analysis of medical records revealed the presence of this phenotype since 1988 and pedigree analysis revealed a common ancestor of several affected calves. CONCLUSIONS AND CLINICAL IMPORTANCE: ZDL syndrome should be suspected in Fleckvieh calves with crusting dermatitis together with diarrhea or respiratory tract inflammations without response to oral zinc supplementation. Definite diagnosis requires molecular genetic confirmation of the PLD4 mutation.


Assuntos
Doenças dos Bovinos/patologia , Zinco/sangue , Animais , Bovinos , Doenças dos Bovinos/diagnóstico , Doenças dos Bovinos/genética , Dermatite/diagnóstico , Dermatite/genética , Dermatite/veterinária , Feminino , Masculino , Erros Inatos do Metabolismo dos Metais/diagnóstico , Erros Inatos do Metabolismo dos Metais/genética , Estudos Prospectivos , Estudos Retrospectivos , Síndrome , Zinco/uso terapêutico
2.
Mov Disord ; 30(7): 996-1001, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25778823

RESUMO

BACKGROUND: SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early-onset dystonia, paraparesis, or late-onset parkinsonism, and chronic liver disease. This is the first identified inborn error of Mn metabolism in humans, reported in 10 families thus far. METHODS: Methods for this study consisted of clinical examination, neuroimaging studies (MRI), serum dosages, and SLC30A10 genetic analysis. RESULTS: We describe early disease manifestations (including videos) in 5 previously unreported Indian children, carrying novel homozygous SLC30A10 mutations. Gait and speech disturbances, falls, dystonias, and central hypotonia were the presenting neurological features, starting within the first 5 years of life. All children also had severe hypermanganesemia, polycythemia, variable degree of liver disease, and marked brain MRI T1 hyperintensities. CONCLUSIONS: Our findings expand the mutational and clinical spectra of this recently recognized disorder. An early diagnosis is warranted, because treatment with manganese-chelating agents, iron supplementation, or their combination might improve symptoms and prevent progression of this otherwise potentially fatal disease. © 2015 International Parkinson and Movement Disorder Society.


Assuntos
Proteínas de Transporte de Cátions/genética , Distonia/genética , Distonia/fisiopatologia , Manganês/metabolismo , Erros Inatos do Metabolismo dos Metais/genética , Erros Inatos do Metabolismo dos Metais/fisiopatologia , Adolescente , Pré-Escolar , Consanguinidade , Distonia/sangue , Distonia/etiologia , Feminino , Humanos , Masculino , Erros Inatos do Metabolismo dos Metais/sangue , Erros Inatos do Metabolismo dos Metais/complicações , Mutação , Linhagem , Fenótipo , Transportador 8 de Zinco
3.
Pediatr Dermatol ; 31(2): 251-2, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24456035

RESUMO

Transient neonatal zinc deficiency (TNZD) has a clinical presentation similar to that of acrodermatitis enteropathica but is caused by a low zinc concentration in maternal breast milk. TNZD becomes clinically evident during breastfeeding and is resolved by weaning and the introduction of complementary nutrition. We present a 4-month-old girl with TNZD due to a new autosomal dominant mutation (663delC) in the maternal SLC30A2 gene not previously described in the literature.


Assuntos
Proteínas de Transporte de Cátions/genética , Erros Inatos do Metabolismo dos Metais/genética , Mutação , Feminino , Transtornos do Crescimento , Humanos , Lactente , Erros Inatos do Metabolismo dos Metais/tratamento farmacológico , Leite Humano/química , Zinco/uso terapêutico
4.
Pediatrics ; 130(6): e1716-9, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23147983

RESUMO

α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition. We have recently found that the urinary excretion of α-AASA was also increased in molybdenum cofactor and sulfite oxidase deficiencies. The seizures in pyridoxine-dependent epilepsy are caused by lowered cerebral levels of pyridoxal-5-phosphate (PLP), the bioactive form of pyridoxine (vitamin B(6)), which can be corrected by the supplementation of pyridoxine. The nonenzymatic trapping of PLP by the cyclic form of α-AASA is causative for the lowered cerebral PLP levels. We describe 2 siblings with clinically evident pyridoxine-responsive seizures associated with increased urinary excretion of α-AASA. Subsequent metabolic investigations revealed several metabolic abnormities, all indicative for molybdenum cofactor deficiency. Molecular investigations indeed revealed a known homozygous mutation in the MOCS2 gene. Based upon the clinically evident pyridoxine-responsive seizures in these 2 siblings, we recommend considering pyridoxine supplementation to patients affected with molybdenum cofactor or sulfite oxidase deficiencies.


Assuntos
Ácido 2-Aminoadípico/análogos & derivados , Aldeído Desidrogenase/genética , Consanguinidade , Epilepsia/diagnóstico , Epilepsia/genética , Erros Inatos do Metabolismo dos Metais/diagnóstico , Erros Inatos do Metabolismo dos Metais/genética , Ácido 2-Aminoadípico/urina , Encéfalo/metabolismo , Encéfalo/patologia , Pré-Escolar , Análise Mutacional de DNA , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/tratamento farmacológico , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/urina , Diagnóstico Diferencial , Imagem de Difusão por Ressonância Magnética , Eletroencefalografia/efeitos dos fármacos , Epilepsia/tratamento farmacológico , Epilepsia/urina , Éxons/genética , Feminino , Triagem de Portadores Genéticos , Homozigoto , Humanos , Lactente , Recém-Nascido , Leucovorina/uso terapêutico , Masculino , Erros Inatos do Metabolismo dos Metais/tratamento farmacológico , Erros Inatos do Metabolismo dos Metais/urina , Molibdoferredoxina/genética , Molibdoferredoxina/urina , Exame Neurológico/efeitos dos fármacos , Fosfato de Piridoxal/deficiência , Fosfato de Piridoxal/metabolismo , Piridoxina/uso terapêutico , Análise de Sequência de DNA , Sulfurtransferases/genética
5.
J Hered ; 74(3): 141-4, 1983.
Artigo em Inglês | MEDLINE | ID: mdl-6863890

RESUMO

Toxic milk, tx, a new autosomal recessive mutation in mice is described. Litters produced by mutant females display a syndrome including poor growth, hypopigmentation, tremors, and ultimately death at two weeks of age. These features, consistent with copper deficiency, are attributed to failure in gestational hepatic copper accumulation exacerbated by subsistence on milk with greatly reduced copper content. Such infants can be rescued by foster-nursing on normal dams or by administered of supplemental cooper. Mutants themselves amass extraordinarily large concentrations of hepatic copper that ultimately leads to liver disease. Erroneous hepatic copper metabolism is further evidenced by reduced ceruloplasmin activity.


Assuntos
Cobre/metabolismo , Erros Inatos do Metabolismo dos Metais/genética , Leite/metabolismo , Mutação , Animais , Cruzamentos Genéticos , Feminino , Genes Recessivos , Heterozigoto , Homozigoto , Camundongos , Camundongos Mutantes , Fenótipo , Gravidez
6.
J Inherit Metab Dis ; 6 Suppl 1: 34-8, 1983.
Artigo em Inglês | MEDLINE | ID: mdl-6413772

RESUMO

Deficiency of dietary Zn rapidly reduces both appetite and growth, the latter effect being apparently caused by a failure of cell replication. Diagnosis of presymptomatic Zn deficiency depends largely on estimation of plasma Zn concentration but is complicated by reductions of it during a range of stressful conditions. In the latter cases, the decrease in plasma Zn concentration does not appear to be associated with inadequate Zn intake. Only two genetic defects of Zn metabolism are known in animals. One is associated with lethally inadequate concentrations of Zn in the milk of mice, the other with the A46 trait in Friesian cattle. A46 is a recessively inherited defect of Zn absorption which is lethal in the absence of major Zn supplementation of the diet. The characteristics of the disease are very similar to those of acrodermatitis enteropathica in man.


Assuntos
Doenças dos Bovinos/diagnóstico , Erros Inatos do Metabolismo dos Metais/veterinária , Zinco/metabolismo , Animais , Bovinos , Doenças dos Bovinos/genética , Humanos , Erros Inatos do Metabolismo dos Metais/diagnóstico , Erros Inatos do Metabolismo dos Metais/genética , Camundongos , Camundongos Endogâmicos C57BL , Suínos , Zinco/deficiência
7.
Arch Dis Child ; 57(9): 716-8, 1982 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-7125694

RESUMO

Hypocupraemia with normal caeruloplasmin levels was found in a 21-month-old boy admitted to hospital because of repeated seizures and failure to thrive. He had blonde curly hair, spurring of the femora and tibiae, and mild anaemia, but his mental development, electroencephalogram, and structure of the hair on microscopical examination were normal. There was a general improvement in his condition with supplements of oral copper but as soon as these were reduced or stopped hypocupraemia and seizures resumed. Family investigation showed copper deficiency with mild symptoms in the mother and the maternal uncle. The pedigree suggests possible autosomal dominant or X-linked dominant transmission.


Assuntos
Erros Inatos do Metabolismo dos Metais/genética , Cobre/sangue , Cobre/deficiência , Humanos , Lactente , Masculino , Erros Inatos do Metabolismo dos Metais/complicações , Convulsões/etiologia
8.
Q J Med ; 50(197): 39-52, 1981.
Artigo em Inglês | MEDLINE | ID: mdl-7267967

RESUMO

A 39-year-old man with a lifelong history of tetany and hypocalcaemia was found to have hypomagnesaemia (0.29 mmol/l) due to renal magnesium loss. His asymptomatic 29-year-old brother had a similar disorder. Both were infertile and had severe oligospermia but normal endocrine function. They had medullary nephrocalcinosis and glomerular filtration rate was reduced. Renal biopsy showed patchy interstitial fibrosis and some glomerular sclerosis. Electron microscopy showed thickened basement membranes in damaged glomeruli and in tubules in areas of fibrosis. Tests of renal tubule function were normal. Hypocalcaemia and tetany were corrected by oral magnesium supplements which raised the serum magnesium level to around 0.54 mmol/l.


Assuntos
Nefropatias/complicações , Magnésio/metabolismo , Erros Inatos do Metabolismo dos Metais/etiologia , Erros Inatos do Transporte Tubular Renal/complicações , Adulto , Antígenos HLA/análise , Humanos , Infertilidade Masculina/complicações , Rim/patologia , Rim/fisiopatologia , Nefropatias/genética , Óxido de Magnésio/uso terapêutico , Masculino , Erros Inatos do Metabolismo dos Metais/genética , Erros Inatos do Transporte Tubular Renal/patologia
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