Fructose-1,6-diphosphatase deficiency in Israel.

The clinical and biochemical data on nine patients belonging to six families with fructose-1,6-diphosphatase deficiency are reported. Two of the six families were Jewish, three were Moslem Arabs and one was of Druze origin. All patients had had neonatal hypoglycemia, lactic acidosis and an abnormal fructose or glycerol loading test. At a later age, instances of hypoglycemia occurred in patients both with and without preceding illness. Hypoglycemic attacks were associated with severe hyperuricemia and metabolic acidosis. Therapeutic measures included a restriction in fructose intake and avoidance of prolonged fasting, particularly during febrile episodes.

Transient renal acidification defect during acute infantile diarrhea: the role of urinary sodium.

We studied urinary acidification daily during the hospital course of 16 infants with acute gastroenteritis and metabolic acidosis. Urine pH value on admission was higher than 5.5 in 14 (87%) patients. We hypothesized that inappropriate urinary acidification was due to sodium deficiency and inadequate sodium delivery to the distal nephron. Forty-one urinary samples were collected during metabolic acidosis. The mean pH of 24 urine samples with sodium concentration less than 10 mmol/L was significantly higher than the pH of 17 samples with sodium concentration greater than 10 mmol/L (6.04 +/- 0.06 vs 5.19 +/- 0.1; p less than 0.001). The urine ratios of titratable acid to creatinine and of total acidity to creatinine were significantly higher in urine samples containing more sodium (p less than 0.02), whereas the ammonium/creatinine ratio was not. After administration of furosemide or correction of the sodium deficit, appropriate acidification was observed. We conclude that impaired urinary acidification is frequently found during metabolic acidosis in infants with acute gastroenteritis and results from a sodium deficit rather than from transient distal renal tubular acidosis.

Changes in endogenous insulin secretion during childhood as expressed by plasma and urinary C-peptide.

Basal fasting values of plasma C-peptide (CP), plasma insulin and 24 h urine CP were determined in 224 normal non-obese subjects of both sexes ranging in age from 1 to 20 years. Analysis of the results by age, pubertal rating, sex and bone age (BA) during childhood showed that mean +/- SD plasma CP levels in both sexes rose from 0.07 +/- 0.08 pmol/ml at the age of 1-2 years to 0.21 +/- 0.11 pmol/ml at 8-10 years. Mean +/- SD plasma insulin levels in both sexes rose from 3.2 +/- 4.3 microU/ml at the age of 1-2 years to 5.9 +/- 4.5 microU/ml at 8-10 years. Mean +/- SD urine CP levels rose from 6.5 +/- 2.8 pmol/mg creatinine per 24 h at the age of 2-8 years to 7.7 +/- 3.5 pmol/mg creatinine per 24 h at 8-11 years in both sexes. During puberty, plasma and urine CP and plasma insulin levels rose further to peak at pubertal stage P3, the values in females being higher (CP = 0.32 +/- 0.06 pmol/ml) than those in males (CP = 0.22 +/- 0.06 pmol/ml) (P less than 0.005). Plasma insulin levels in females were 13.2 +/- 6.9 microU/ml and 6.4 +/- 3.1 microU/ml in males (P less than 0.05). Urine CP levels were 14.5 +/- 5.7 pmol/mg creatinine per 24 h and 10.8 +/- 5.4 pmol/mg creatinine per 24 h in females and males respectively (P less than 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)

Hydrocortisone resolves persistent neonatal jaundice in multiple hormone deficiencies.

Association of prolonged neonatal cholestasis with hypoglycemia, small penis and congenital hypothalamo-hypopituitary derangement is presented. The infant's jaundice was unresponsive to thyroxine replacement therapy but resolved rapidly with hydrocortisone therapy. The time relationships between persistent jaundice and thyroxine and cortisol deficiencies are discussed.