منابع مشابه
Neurological outcome of methylmalonic acidaemia.
OBJECTIVE To assess the long term outcome of patients with methylmalonic acidaemia in a cross sectional study. PATIENTS All 35 patients with methylmalonic acidaemia seen at Great Ormond Street Hospital for Children in London, UK between 1970 and 1996 were studied. They were divided into cobalamin responsive (n = 6) and non-responsive (n = 29), and early and late onset groups. RESULTS There ...
متن کاملThe clinical evaluation of cobalamin deficiency by determination of methylmalonic acid in serum or urine is not invalidated by the presence of heterozygous methylmalonic-acidaemia.
It is well established that accumulation of methylmalonic acid may provide an early clue to the existence of tissue cobalamin (vitamin B12) deficiency. To verify whether methylmalonic acid accumulates in adult heterozygotes for inherited methylmalonic-acidaemia and thereby gives "false" positive test results for cobalamin deficiency, we measured the concentration of methylmalonic acid in serum ...
متن کاملAcidaemia and salicylate poisoning in adults.
A review of the arterial acid-base status on admission to hospital of 62 adults with severe salicylate poisoning showed that arterial pH was normal or high in most patients, but low in 8. The mean plasma salicylate concentrations of the acidaemic and nonacidaemic patients were similar and the difference in arterial pH was associated with a marked fall in standard bicarbonate in the former group...
متن کاملClinical Spectrum of Propionic Acidaemia
Objectives. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with propionic acidaemia (PA). Methods. The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively. Results. Twenty-six patients with PA had 133 admissions. The majority (85%) of the patients exhibited clinical manifestations in the 1st week of life. R...
متن کاملMethylmalonic acidemia
The authors provide an overview of the hereditary methylmalonic acidemias, a group of metabolic disorders with varied clinical presentations. This includes the most severe form of L-methylmalonyl-CoA mutase deficiency, termed mut(o) methylmalonic acidemia, which, together with the less severe deficiencies of L-methylmalonyl-CoA mutase, are the most common causes of methylmalonic acidemia. They ...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2014
ISSN: 1757-790X
DOI: 10.1136/bcr-2014-203723