Organic Acidurias
Inborn errors of metabolism leading to accumulation of organic acids. As a group, common cause of infantile encephalopathy due to inherited metabolic diseases.
Rapid diagnosis crucial: some curable; in others, metabolic attacks preventable.
Most common organic acidurias involve two principal biochemical pathways: (a) degradation of amino acids; (b) β-oxidation of fatty acids. Lactic acidemia another cause of organic aciduria; usually pyruvate dehydrogenase deficiency or respiratory chain defect (see Chapter 98).
Clinical Features
Neonatal acute encephalopathy: signs and symptoms usually nonspecific: vomiting, hypotonia, drowsiness, coma, multisystem failure.
Chronic (infancy/early childhood, through adulthood): (a) intermittent: recurrent episodes of metabolic acidosis, coma, focal neurologic signs; or (b) progressive: poor growth, chronic vomiting, macrocephaly, impaired psychomotor development, hypotonia, dystonia, spastic tetraplegia, intractable seizures.
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