Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation
نویسندگان
چکیده
منابع مشابه
Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy
Objective Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascular lesions including petechial purpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea. Biochemical hallmarks of the disease are persistently high level of lactate, and C4-C5-acylcarniti...
متن کاملIdiopathic hypoproteinaemic oedema and amino-aciduria in an infant.
Hypoproteinaemic oedema may result from a deficiency of protein in the diet or interference with its absorption from impaired synthesis of serum proteins in the liver, or from loss of protein, as in albuminuria. In some cases, termed idiopathic hypoproteinaemia, the cause is obscure. A few examples in children are on record. Schick and Greenbaum (1945) described an I -year-old girl who had had ...
متن کاملethylmalonic aciduria and report of one case from iran
this condition is due to deficiency in electron transport flavoprotein or electron transport fluvoprotein dehydrogenase.the clinical presentation is characteristic of fatty acid oxidation disorders. this disorder is poor prognostic and death in infancy is common.the central nervous system involving causes neurodevelopmental delay, hypotonia, and head lag. different type of seizures such as infa...
متن کاملneurological and vascular manifestations of ethylmalonic encephalopathy
how to cite this article: tavasoli ar, rostami p, ashrafi mr, karimzadeh p. neurological and vascular manifestations of ethylmalonic encephalopathy. iran j child neurol. spring 2017; 11(2):57-60. abstract objective ethylmalonic encephalopathy (ee) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, a...
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Ibipinabant (IBI), a potent cannabinoid-1 receptor (CB1R) antagonist, previously in development for the treatment of obesity, causes skeletal and cardiac myopathy in beagle dogs. This toxicity was characterized by increases in muscle-derived enzyme activity in serum and microscopic striated muscle degeneration and accumulation of lipid droplets in myofibers. Additional changes in serum chemistr...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2017
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2017.279497