Maternal and fetal tyrosinemia type I.

A 22 year-old woman with tyrosinemia type I (HT1) married her first cousin who is heterozygous for the same FAH mutation for which the patient is homozygous. During her pregnancy she was treated with diet (prescribed tyrosine intake 300 mg/day), and nitisinone (60 mg/day). Median plasma tyrosine levels were 560 µmol/L (range: 375-838, n = 21) and nitisinone 51 µmol/L (range: 41-57, n = 3) during pregnancy. She gave birth to a clinically healthy girl affected with tyrosinemia type 1. Birth was normal (birth weight 2615 g) and the baby had normal liver function, normal plasma alpha-fetoprotein concentrations, low urinary excretion of phenolic acids and no detectable succinylacetone. At birth, the baby had hypertyrosinemia (860 µmol/L in blood cord) and nitisinone levels of 14 µmol/L. Following molecular confirmation of the diagnosis of HT1 specific treatment began on day 15 by which time she had detectable urinary succinylacetone.

Efficacy of Humalog injections before an afternoon meal and their acceptance by children and adolescents with type 1 diabetes.

AIMS: To evaluate the acceptability and efficacy of an injection of insulin lispro, before an afternoon meal. METHODS: The subjects, 43 patients with Type 1 diabetes, 16 boys and 27 girls, aged 12.4 +/- 2.4 years, were randomly assigned to the treatment (n = 20) or the untreated control group (n = 23). The treatment was an injection of insulin lispro immediately before the afternoon meal. The control group had no injection. The treatment and the control group consumed identical types of meals for 2 months. The mean before-dinner blood glucose was measured during the last 2 weeks of the study. RESULTS: Injection of insulin lispro resulted in a significant reduction in the before-dinner blood glucose compared with the untreated control group (10.4 +/- 3.8 mmol/l vs. 14.7 +/- 3.9 mmol/l, respectively). The number of days on which the blood glucose was > 10 mmol/l was reduced by half in the insulin lispro group. The difference in HbA1c between baseline and endpoint differed slightly but significantly between the two groups, in boys. Treated patients ate the meal less frequently (11.4 +/- 3.0 times per 15 days) than the control patients (14.4 +/- 0.6 times per 15 days) and injected themselves with insulin 8.9 +/- 3.6 times per 15 days. The HbA1c increased significantly with the number of meals taken without injection. There was no statistically significant difference in the frequency of hypoglycaemia or changes in weight between the two groups. CONCLUSIONS: We conclude that an injection of insulin lispro before the afternoon meal can effectively lower the before-dinner blood glucose, and in boys also lowers the HbA1c. Patients were satisfied with the lower blood glucose before dinner, and did not find the insulin lispro injection difficult. However, compliance with the protocol procedures decreased during a subsequent 6-month period.

[Evaluation of dietary vitamin A intake in children with and without growth retardation]. / Evaluation de l'apport alimentaire en vitamine A chez l'enfant avec et sans retard statural.

BACKGROUND: A possible involvement of vitamin A in regulating physiological nocturnal growth hormone secretion has been recently suggested leading us to evaluate the daily vitamin A supply in prepubertal school children. POPULATION AND METHODS: A questionnaire including a list of foods containing vitamin A and/or beta-carotene was answered with the aid of the parents. Vitamin A supply was expressed in retinol-Equivalent and estimated as mean daily intake over a one-year period. Following this methodology, a study was conducted in 104 control school children with normal stature and 110 children with short stature. RESULTS: The total daily vitamin A intake (mean +/- SD: 1.197 micrograms +/- 799), retinol (675 micrograms +/- 628) and beta carotene (525 micrograms +/- 355) was above or equal to the recommended intake in more than 75% of the control children. In contrast, the total daily vitamin A intake (mean +/- SD: 787 micrograms +/- 850, P < 0.0002) retinol (436 micrograms +/- 670, P < 0.0004) and beta carotene (353 micrograms +/- 466, P < 0.002) was significantly decreased in those children with short stature, more than 35% of them having daily intake below the recommended one. The dietary vitamin A intake was also deficient when expressed as ER/1,000 calories (mean SD = 444 +/- 262) in the 46 children with short stature in whom the calorie intake had been evaluated for three days. CONCLUSIONS: This study confirms that annual dietary vitamin A intake can easily be measured in school children. Its results suggest that this intake, relatively deficient in children with short stature, could be correlated with deficient secretion of growth-hormone.

Vitamin A deficiency and nocturnal growth hormone secretion in short children.

In the growth hormone (GH) neurosecretory dysfunction syndrome affecting slowly growing children with delayed bone age, low nocturnal GH secretion is accompanied by normal responses to pharmacological stimuli. We compared plasma vitamin A with physiological nocturnal and stimulated GH secretion in 68 short prepubertal children. Fasting plasma vitamin A correlated with nocturnal GH secretion but not with stimulated GH secretion. Total dietary vitamin A intake was significantly lower in short children with abnormal nocturnal GH secretion than in normal children and in endocrinologically-normal short children. 9 of 12 children with low nocturnal GH secretion and normal stimulated GH peaks who were supplemented with vitamin A 3000 micrograms for 3 months had increased nocturnal GH secretion.