Hypoketotic hypoglycaemia

Ketone bodies (KBs) circulate in the blood as (CH3-CHOH-CH2-COOH) and ACAC (CH3-CO-CH2-COOH). The blood concentrations of these two metabolites depend upon the equilibrium between their production by the liver (ketogen-esis) and consumption at the peripheral level (ketogenolysis). Abnormalities of KB metabolism manifest as ketosis, hypoketotic hypoglycaemia and inversion of the 30HB arachidonic acid (AA) ratio [12]. 

Primary carnitine deficiency is caused by a deficiency in the plasma-membrane carnitine transporter. Intracellular carnitine deficiency impairs the entry of long-chain fatty acids into the mitochondrial matrix. Consequently, long-chain fatty acids are not available for p oxidation and energy production, and the production of ketone bodies (which are used by the brain) is also impaired. Regulation of intramitochondrial free CoA is also affected, with accumulation of acyl-CoA esters in the mitochondria. This in turn affects the pathways of intermediary metabolism that require CoA, for example the TCA cycle, pyruvate oxidation, amino acid metabolism, and mitochondrial and peroxisomal -oxidation. Cardiac muscle is affected by progressive cardiomyopathy (the most common form of presentation), the CNS is affected by encephalopathy caused by hypoketotic hypoglycaemia, and skeletal muscle is affected by myopathy. 

Since the first report of CAC deficienry (OMIM entry 212138) by Stanley et al. 1 cases have been reported. Most patients suffer from hypoketotic hypoglycaemia and... 

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