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Chapter
Generalised Dicarboxylic Aciduria: A Common Finding in Neonates
Inborn errors of organic acid metabolism presenting with sudden onset hypoglycaemia in association with infection or prolonged fasting have been shown to account for a proportion of sudden infant deaths (SID) ...
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Chapter
Primary Hyperoxaluria and L-Glyceric Aciduria in the Cat
L-Glyceric aciduria (primary hyperoxaluria type 2; McKusick 26000) is a rare inherited disorder characterized in man by recurrent calcium oxalate nephrolithiasis, chronic renal failure and early de...
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Chapter
The Diagnosis and Biochemical Investigation of a Patient with a Short Chain Fatty Acid Oxidation Defect
Though the clinical and biochemical features of medium chain acyl-CoA dehydrogenase deficiency are now becoming well established we have much less experience of defects in short chain acyl-CoA dehydrogenation....
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Chapter
Two Cases of ß-KetothioIase Deficiency: A Comparison
At least three isoenzymes of ß-ketothiolase exist in human fibroblasts: (1) a mitochondrial’ branched chain’ ß-ketothiolase (MBK) (EC 2.3.1.9) which can thiolyse 2-methylacetoacetyl CoA and acetoacetyl CoA., (...