Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family.

We describe hepatic carnitine palmitoyltransferase (CPT I) deficiency in three children (a brother and sister and their second cousin) from an extended inbred Hutterite kindred. The patients were first seen between 8 and 18 months of age with recurrent episodes of hypoketotic hypoglycemia accompanied by a decreased level of consciousness and hepatomegaly. One patient had two Reye syndrome-like episodes. Abnormal organic acids were rarely detected in urine. Serum total and free carnitine levels were elevated in all three patients. Fibroblast acyl-coenzyme A dehydrogenase activities were normal in all, but palmitic acid oxidation, performed in fibroblasts from one patient, was less than 10% of control values. Activity of CPT I in cultured skin fibroblasts from the three patients was 10% to 15% of control levels; CPT II activity was normal. Activity of CPT I and CPT II in muscle from one patient was normal. Atypical features in two of these patients were greatly elevated levels of liver enzymes and creatine kinase during acute episodes. The patients have recently been successfully treated with medium-chain triglycerides and avoidance of fasting. Early identification and treatment of this disorder may avert potentially fatal episodes of hypoglycemia.

Relationship between lower esophageal sphincter pressure and serum gastrin concentration in the newborn infant.

We measured lower esophageal sphincter pressure in 22 healthy unsedated term neonates (mean age 8.25 hours) with a double-lumen tube, continuously perfused manometric system. Studies were repeated in 18 infants on day 4. Serum gastrin concentration was measured with 34 studies and in 22 adult controls. Mean (+/- SD) LESP and serum gastrin concentration, respectively, were 41.9 mm Hg (+/- 10.9) and 142.6 pg/ml (+/- 56.0) on day 1 and 39.1 mm Hg (+/- 11.5) and 144.9 pg/ml (+/- 54.5) on day 4. LESP did not correlate with age on day 1 or with serum gastrin concentration on either day 1 or 4. Serum gastrin concentration in the adult controls (98.9 pg/ml +/- 35.4) was significantly higher than that of the neonates. We conclude that LESP is well developed in the healthy term neonate. Although neonatal serum gastrin concentrations are higher than in the adult, they do not correlate with LESP, and endogenous gastrin probably plays no role in the maintenance of basal LESP in the newborn infant.

Liver disease associated with alpha1-antitrypsin deficiency in childhood.

Liver disease in children with alpha1-antitrypsin deficiency and protease inhibitor type ZZ does not necessarily carry a bad prognosis. Fourteen of our 18 patients presented with the neonatal hepatitis syndrome and four had hepatomegaly without jaundice. Although four patients have died of cirrhosis and its complications, and three have severe liver disease, most of the 11 others, of whom four are over 13 years of age, have relatively little clinical, biochemical, or histologic evidence of liver disease. Persistent elevation of SGOT during the third year of life and renal or pulmonary problems were associated with a poor prognosis. Liver biopsy early in the course of the disease was not helpful prognostically but was useful in assessment of the severity of liver disease and demonstration of alpha1AT storage, alpha1AT deficiency was found in 29% of our patients who presented with the neonatal hepatitis syndrome. One of seven apparently healthy Pi type ZZ sibs of our patients had significant liver disease which had not been suspected previously.