Glycollic aciduria

Glycollic aciduria (Primary hyperoxaluria Type I) Glycollic, glyoxylic, oxalic... 

Primary hyperoxaluria Type I (glycollic aciduria) Glycollic, oxalic and glyoxylic acids Cytosol glyoxylate 2-oxoglutarate carboligase 16.3.1... 

Methylmalonic aciduria is rare and can be diagnosed incorrectly. In 1989 a woman in St. Louis, Missouri, was convicted and sentenced to life in prison for murdering her 5-month-old son by poisoning with ethylene glycol. While in prison she gave birth to another son who soon fell ill of methylmalonyl aciduria and was successfully treated. Reexamination of the evidence revealed that the first boy had died of the same disease and the mother was released.1... 

It is impossible to distinguish these two types of oxaluria without careful biochemical investigation of the blood and the urine, and without direct attempts to identify the enzyme defect. The crucial difference between glycolic and glyceric aciduria is precisely that in addition to oxalate, glycolic acid accumulates in primary oxaluria, whereas glyceric acid accumulates in the second type [106, 107]. 

The broad spectrum of clinical presentation highlights the importance of particular steps in purine and pyrimidine metabolism to different cells and tissues and should have assisted in the development of appropriate treatment. Unfortunately, only three of the nineteen disorders described can be treated successfully hereditary orotic aciduria with life-long uridine, 2,8-di-hydroxyadenine lithiasis with allopurinol. ADA deficiency is treatable by bone marrow transplantation (BHT), or enzyme replacement with polyethylene glycol (PEG)-ADA, but the cost is prohibitive. Er/throcyte-encapsu-lated ADA is effective and less expensive. Oral ribose is reportedly beneficial in myoadenylate deaminase deficiency [1, 4] and also in adenylosucci-nase deficiency [1, 5]. PNP deficiency is also treatable by BMI. 

Fig. 9.3 Gas chromatogram of extracted amniotic fluid obtained at 17 weeks gestation from a mother at risk for methylmalonic aciduria and carrying an affected foetus. Amniotic fluid was extracted using diethyl ether and the methylated extract was chromatographed on 10 per cent poly(pthylene glycol) 400 at 108 C. The methylmalonate peak (peak arrowed) has superimposed upon it a peak representing the upper limit of normal. (Redrawn with modifications from Gompertz et al., 1974)...

Fig. 16.2 Chromatogram of organic acids extracted using ethyl acetate and diethyl ether from the urine of a patient with o-glyceric aciduria (Brandt et al, 1976) and separated as their trimethylsiiyl derivatives on 3 per cent OV-1. Peak identifications are 1, glycollate plus lactate 2, urea 3, glycerate (d) 4, 4-hydroxyphenylacetate. (Redrawn with modifications from Brandt et al, 1976)...

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