For GSD-Ia, hyperuricemia and pyelonephritis should be treated to prevent nephrocalcinosis and additional renal damage. For GSD-Ib, granulocyte-colony-stimulating factor may prevent bacterial infections. For GSD-III, more data are required to determine whether the myopathy and cardiomyopathy can be prevented. Most of the patients with GSD-I and GSD-III had 12 or more years of education and were either currently in school or employed.
This study evaluated the growth of 51 children with cerebral palsy after the initiation of enteral tube feedings. The children were divided into three groups according to how soon after their central nervous system (CNS) insult they were started on enteral feedings. Group 1 consisted of 14 children who were within a year of their CNS insult; they were underweight for age, but had normal length as well as weight for length. Within 6 months of initiating enteral tube feedings, most children in this group had normalized their weights. Group 2 consisted of 27 children who were within 8 years of their CNS insult; they were stunted and were underweight for both their age and their length. Within 6 months of initiating enteral feeds, the group increased both weight and weight for length to near normal, but their gains in length reached a plateau at 90% of ideal for age. Group 3 consisted of 10 children who were more than 8 years after their CNS insult. This group was severely malnourished but had some improvement in their weight for age and for length but, length for age showed no significant change. We conclude that the earlier adequate nutritional management of children with severe cerebral palsy is initiated, the more readily the nutritional deficits will reverse.
Two patients have been studied in whom the activity of the short chain-length-specific mitochondrial 3-ketothiolase was found to be deficient. Use of a range of 3-ketoacyl-CoA substrates showed that the other 3-ketothiolase isoenzymes were normal in each case. Both patients had episodic ketosis and metabolic acidosis. One patient had substantial evidence of damage to the central nervous system and two siblings who had died of the disease. The organic aciduria was characterized by the excretion of 2-methyl-3-hydroxybutyric acid and tiglyglycine. In one patient the organic aciduria was very subtle and was masked during the presence of ketosis, but it was clarified by an isoleucine load after recovery from ketosis.
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