Diagnosis of Methylmalonic Acidemia from Dried Blood Spots by HPLC and Intramolecular-Excimer Fluorescence Derivatization
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چکیده
منابع مشابه
Diagnosis of methylmalonic acidemia from dried blood spots by HPLC and intramolecular-excimer fluorescence derivatization.
Because of this specificity, a proportion of patients who are investigated for vitamin B 12 deficiency will end up being tested for the presence of IFABs, regardless of the diagnostic cascade favored by the investigating physician(s) (1, 2). In referral laboratories, this may lead to substantial test volumes of labor-intensive manual RIAs, with all the associated problems. These range from an i...
متن کاملMethylmalonic Acidemia Diagnosis by Laboratory Methods
Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...
متن کاملMethylmalonic Acidemia Diagnosis by Laboratory Methods.
Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...
متن کاملDiagnosis of adrenoleukodystrophy using dried blood spots.
We have demonstrated the increased C26:0/C22:0 ratio in the fatty acids of sphingolipid fraction in dried blood spots on filter paper from the patient with adrenoleukodystrophy. The ratio of C26:0/C22:0 in the dried blood spots from the patient was 2.1-fold higher than those of the normal controls. This value was almost the same as the ratio in erythrocyte membrane sphingomyelin from the patien...
متن کاملmethylmalonic acidemia diagnosis by laboratory methods
methylmalonic acidemia (mma) is usually caused by a deficiency of the enzyme methylmalonyl-coa mutase (mcm), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cbla, cblb, cblc, cblf, cbld, and cblx), or deficiency of the enzyme methylmalonyl-coa epimerase. a comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2005
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2004.040022