RESUMEN
A boy with psychomotor retardation and Leber congenital amaurosis, sensory hearing loss, and hepatomegaly is reported. Accumulation of bile acid precursors and very long chain fatty acids together with impaired biosynthesis of plasmalogens in cultured fibroblasts (similar to those in the cerebrohepatorenal syndrome of Zellweger) were detected, but the clinical picture was distinctly different. Defective oxidation of phytanic acid was measured in fibroblasts. The virtual lack of peroxisomes in a liver biopsy specimen lends further support to the contention that at least some patients with Leber congenital amaurosis may have one of the recently defined "peroxisomal disorders." The biochemical findings indicate the possibility of prenatal diagnosis.
Asunto(s)
Ceguera/congénito , Pérdida Auditiva Sensorineural/metabolismo , Hepatomegalia/metabolismo , Discapacidad Intelectual/metabolismo , Microcuerpos/fisiología , Adrenoleucodistrofia/diagnóstico , Biopsia , Ceguera/diagnóstico , Ceguera/metabolismo , Encefalopatías/diagnóstico , Células Cultivadas , Diagnóstico Diferencial , Femenino , Fibroblastos/metabolismo , Pérdida Auditiva Sensorineural/diagnóstico , Hepatomegalia/diagnóstico , Hepatomegalia/patología , Humanos , Lactante , Discapacidad Intelectual/diagnóstico , Enfermedades Renales/diagnóstico , Hígado/metabolismo , Hígado/patología , Hepatopatías/diagnóstico , Masculino , Oxidación-Reducción , Ácido Fitánico/metabolismo , Plasmalógenos/biosíntesis , SíndromeRESUMEN
Plasma and red cell folate concentrations (L. casei activity) and other pertinent blood values have been studied during the first year of life in 64 term infants. After weaning and until 6 months of age, 33 infants were given milk formula I (88 nmole [39 micrograms] folate per liter) and 31 infants MF II (178 nmole [78 micrograms] folate per liter). These infants were compared with 35 breast-fed term infants, considered to have an optimal folate status. The mean folate concentration in the human milk consumed at 3 months of age was 124 nmole (55 micrograms) per liter. The infants fed MF I had low plasma and red cell folate concentrations during the first months of life. The infants fed MF II had folate values almost comparable to those of the breast-fed infants. The weight gain in the infants fed MF II was significantly higher than observed in the infants fed MF I during the first 6 months of life. No significant differences related to folate deficiency were observed between the hemoglobin, RBC, and VPRC values in the formula-fed infants and those recorded in the breast-fed infants. It is estimated that the optimal folate intake during the first months of life in formula-fed infants is about 170 nmole (75 micrograms) per day. This amount is higher than previously recommended. Infants from all groups had folate intake similar to, or above, the minimal daily requirement needed for the erythropoiesis.
Asunto(s)
Ácido Fólico/sangre , Alimentos Infantiles , Fenómenos Fisiológicos de la Nutrición , Necesidades Nutricionales , Peso Corporal , Lactancia Materna , Eritrocitos/análisis , Ácido Fólico/análisis , Humanos , Recién Nacido , Leche Humana/análisis , Plasma/análisisRESUMEN
The plasma and red blood cell folate concentrations have been studied in 344 newborn infants at 20 to 43 weeks of gestation and in 286 of their mothers at delivery. Folic acid supplementation was no given to the mothers during pregnancy. The mothers had no signs of folate deficiency as judged from their plasma and red blood cell folate concentrations and the red blood cell picture. The infants had significantly higher plasma folate concentrations than in adult control subjects, and six to eight times higher plasma folate concentrations than found in their mothers throughout the observation period. The red cell folate concentrations in the infants were significantly higher than in adult control subjects, and the concentrations were about two times higher than found in their mothers until 34 to 37 weeks of gestation. Term infants had significantly higher red cell folate concentrations than infants of lower gestational age. During the last weeks of pregnancy an increased transfer of folate to the fetus probably takes place.