5 Result(s)
within
Chapter
M J Bennett
Pediatrics
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Chapter
Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency
Liver dysfunction usually accompanies metabolic decompensation in fatty acid oxidation disorders, including carnitine palmitoyltransferase (CPT) Ia deficiency. Typically, the liver is enlarged with raised plas...
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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., (...
