A New Syndrome of Keto-acidemia in Infancy

Abstract

Following unexplained tachypnea in the first month of life, C.C., a Negro male born of healthy, unrelated parents, presented at 6 weeks of age with recurrent tachycardia, hyperpnea and dehydration. Severe metabolic acidosis, ketonuria, ketonemia and amino-aciduria were present, yet the free fatty acids, glycerol and glucose values were normal. These episodes consistently lasted 72 h and required intense hydration (200–250 cc/KG/24 h) and alkalinization (up to 40 mEq NaHCO₃) therapy. Methylmalonic acidemia, hyperglycinemia, glycogen storage disease, diabetes mellitus and salicylism were climinated as the etiology. Episodes of keto-acidosis occurred spontaneously with soy formula feedings; but with carbohydrate feedings alone, the child remained clinically normal and relatively ketone free. The administration of soy protein precipitated keto-acidosis within three h. This incident was characterized by the rapid production of a metabolic acidosis, rise in serum ketones from 36 mgm% to over 100 mgm%, excretion of up to 4.94 gm of urinary ketone/24 h, and the development of reversible amino-aciduria, consisting primarilyof lysine, glycine and phenylalanine. Measurement of the serum amino acids during ketosis revealed mild elevations in proline, lysine and glycine. The child succumbed at age 26 weeks. Continued studies of h, cultured skin fibroblasts indicate normal utilization of propionate, methlymalonate, β-hydroxybutyrate and aceto-acetate. It is postulated that this child represents a previously undescribed form of keto-acidosis due to the excessive production of ketones from amino acids.

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