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A large number of diseases, at least 70, involve the metabolism of organic and amino acids. Some diseases present as repeated episodes of acute metabolic decompensation, and the central nervous system (CNS) involvement is usually secondary to the accompanying acidosis, hypoglycemia, or hyperammonemia or to the elevated concentration of amino acids. Nevertheless, it is the secondary involvement of the CNS that is important and is the main problem requiring management. Another group of these disorders involves the CNS primarily, with the systemic disease being negligible. Such disorders are difficult to label at the time of initial encounter as either an organic or amino acid disorder because there are no episodes of acid-base disturbance or disturbance of glucose or ammonia metabolism. They can only be diagnosed by specialized biochemical tests. The recent advent of tandem mass spectrometry is changing the practice of neurometabolic diseases since it provides a rapid diagnosis. [i] , y In many instances the child will become neurologically crippled before the diagnosis is suspected and ascertained. A third group of disorders impact both the CNS and peripheral tissues. Likewise, mitochondrial enzyme defects treated later in the chapter can be classified by age of presentation. Childhood disorders can be classified in Table.i3i:i according to their main presenting features and age. [i] , y The porphyrias are primarily adult-onset disorders.

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