Search

Objetivo: Comparar las variaciones de los ácidos grasos poliinsaturados de cadena larga (LCPUFA) al nacer y al año de edad en niños alimentados con lactancia materna prolongada, lactancia materna de duración media y fórmula artificial. Pacientes: Un total de 77 niños sanos a término con alimentación conocida fueron divididos en grupos: el grupo A (n = 25) había recibido lactancia prolongada (más de 6 meses); el B (n = 26), lactancia media (más de 3 meses y menos de 5), y el C (n = 26), cuyos sujetos fueron alimentados únicamente con fórmula artificial. Se midió la proporción de ácidos grasos plasmáticos al nacer y al primer año de vida. Resultados: No existen diferencias en el momento del nacimiento. Sin embargo, hay una disminución significativa de la proporción de los principales LCPUFA, ácido docosahexaenoico (DHA) y ácido araquidónico (AA), entre el nacimiento y el primer año de vida. Al año, el porcentaje de DHA varía significativamente entre el grupo A y los otros dos: 2,46 ± 0,84 frente a 1,80 ± 0,48 y 1,89 ± 0,75 (p

Objetivo: Valorar los cambios en la composición de ácidos grasos en fosfolípidos de membrana del hematíe, en niños alimentados mediante lactancia materna frente a diferentes fórmulas lácteas artificiales (convencional, leche suplementada con v-3, leche suplementada con v-3 y v-6 y leche suplementada con nucleótidos). Material y métodos: Se estudiaron 37 niños sanos, nacidos a término. Los niños se repartieron en 5 grupos, atendiendo a los diferentes tipos de lactancia. A los 7 y 60 días de vida se obtuvo la medida de 4 parámetros antropométricos: peso, talla, perímetro cefálico y perímetro braquial y se analizó la composición en ácidos grasos de fosfatidilcolina y fosfatidiletanolamina, en la membrana del hematíe. Resultados: Las variables antropométricas estudiadas no mostraron diferencia alguna. La concentración de ácido araquidónico (C20:4 v-6) a los 60 días de vida en fosfatidilcolina fue inferior en las fórmulas artificiales no suplementadas con ácidos grasos v-6, en relación a la leche materna (4,03, 3,68 y 5,15 frente a 7,20/100 g de ácidos grasos). La concentración de ácido docosahexaenoico (C22:6 v-3), en fosfatidilcolina y fosfatidiletanolamina fue claramente inferior en el grupo de niños alimentados con leche artificial no suplementada con ácidos grasos v-3, en relación a la leche materna (fosfatidilcolina, 0,72 frente a 2,82/100 g de ácidos grasos; fosfatidiletanolamina, 5,15 frente a 7,73/100 g de ácidos grasos). Conclusiones: Este estudio, realizado con todas las fórmulas artificiales con posible influencia en el perfil de ácidos grasos poliinsaturados de cadena larga (LCP) existentes en el mercado español, pone de manifiesto la diferente riqueza en ciertos ácidos grasos, en los fosfolípidos de la membrana del hematíe, de los niños alimentados con lactancia materna y las diferentes fórmulas lácteas. Este hecho refleja que los niveles de estos ácidos grasos son en gran parte dependientes de la oferta dietética de los mismos. : Objective: To evaluate changes in the fatty acid composition of red blood cell phospholipids in breast-fed infants compared with those in infants fed with different formulas (conventional, v-6-enriched formula, v-6- and v-3-enriched formula and nucleotide-enriched formula). Methods: Thirty-seven healthy term infants were randomly assigned to one of five different feeding groups. Weight, length, head circumference, and arm circumference were assessed at 7 and 60 days of age. The fatty acid composition of the infants' red blood cell phosphatidylcholine (PC) and phosphatidylethanolamine (PE) were analyzed at these ages. Results: The anthropometric variables studied showed no changes among the different groups. At 60 days old, arachidonic acid concentration (20:4 v-6) was lower in non-v-6 enriched formula-fed groups compared with that in the breast-milk fed group (4.03, 3.68 and 5.15 vs 7.20 g/100 g of fatty acids). Docosahexaenoic acid concentration (22:6v-3) in both PC and PE clearly decreased in the non-v-3 formula-fed groups compared with that in the breast-milk fed group (PC: 0.72 vs 2.82 g/100 g of fatty acids and PE: 5.15 vs 7.73 g/100 g of fatty acids). Conclusions: This study demonstrates differences in the fatty acid composition of red blood cell phospholipids between breast-milk fed infants and those fed with any of the artificial formulas available on the Spanish market. These data provide evidence of the influence of diet on certain essential fatty acids in the body.

Los errores congénitos de la oxidación mitocondrial de los ácidos grasos son un grupo complejo de enfermedades, en el que se incluyen en la actualidad hasta 22 diferentes entidades. Son de base genética, con una incidencia probablemente subestimada, debiéndose tener un alto índice de sospecha diagnóstica para su detección. Su espectro clínico y pronóstico son variables, habiendo disminuido su mortalidad tras su mejor estudio y tratamiento. Una característica común es la hipoglucemia hipocetósica; aunque no es constante y no aparece en los errores de cadena corta y en ocasiones en los de cadena media. Es característica la miopatía cardíaca o esquelética y/o con afectación hepática en períodos de descompensación metabólica, ya que estos tejidos son dependientes de la oxidación de los ácidos grasos. El diagnóstico se ha simplificado con el estudio de las acilcarnitinas en sangre, incluso en períodos de estabilidad metabólica. La determinación de acilglicinas, ácidos orgánicos, carnitina, ácidos grasos libres y 3-hidroxiácidos completaría el diagnóstico, unido al estudio enzimático y genético. En determinadas situaciones se debe recurrir a las pruebas de provocación. El tratamiento consistirá básicamente en evitar el ayuno, la restricción del aporte graso y en un incremento de los hidratos de carbono, dependiendo del tipo de error metabólico, al que se puede añadir el farmacológico (carnitina, riboflavina y carbamilglutamato). : Inherited mitochondrial fatty acid oxidation disorders are a complex set of genetically-based diseases in which up to 22 different entities are currently recognized. Their incidence is probably underestimated because a high level of diagnostic suspicion is required for their detection. Their clinical spectrum and prognosis are variable. In recent years knowledge of these diseases and improved treatment have reduced associated mortality. A common characteristic of all these diseases is hypoketotic hypoglycemia, although this is not constant and does not appear in the short-chain disorders and, sometimes, does not even appear in the medium-chain disorders. Cardiac or skeletal myopathy combined and/or hepatic involvement at periods of metabolic decompensation are typical, since these tissues depend on fatty acid oxidation. Diagnosis has been simplified by the study of acylcarnitines in blood, even in periods of metabolic stability. Determination of acylglycines, organic acids, carnitines, free fatty acids and 3-hydroxy-fatty acids, together with enzymic and genetic studies, complete the diagnosis. In certain circumstances, a provocation test should be carried out. Treatment basically consists of avoiding fasting, restricting fatty acid uptake and increasing carbohydrate uptake, depending on the type of metabolic disorder. Pharmacological treatment may also be added (carnitine, riboflavine or carbamylglutamate).

Fundamento: El papel que desempeña la leche materna, en especial los ácidos grasos poliinsaturados de cadena larga n-3, en el desarrollo intelectual del niño sano a término sigue suscitando polémica en la actualidad Pacientes y métodos: Se realizó un estudio prospectivo y ciego con 39 niños sanos a término pertenecientes a familias de nivel sociocultural homogéneo. Se dividieron de forma no aleatorizada en dos grupos alimentados con leche materna o leche infantil convencional. A los 7 y 60 días se midieron las concentraciones de ácidos grasos poliinsaturados de cadena larga en fosfolípidos de membrana de los hematíes en 12 niños con lactancia natural y 6 niños con lactancia artificial. Al final del segundo año se evaluó el desarrollo intelectual del total de niños mediante el test de Bayley Resultados: La concentración de ácido docosahexaenoico en los fosfolípidos fosfatidilcolina y fosfatidiletanolamina de la membrana del hematíe fue significativamente inferior en el grupo de niños con lactancia artificial. No se encontraron diferencias significativas en el desarrollo intelectual entre los grupos. Se halló una asociación significativa entre el índice de desarrollo mental y las variables perímetro cefálico del niño y grado de educación materno Conclusiones: El tipo de lactancia recibida y, como consecuencia, las diferencias en el perfil de ácidos grasos poliinsaturados de cadena larga en la membrana del hematíe, no se han relacionado con el desarrollo intelectual alcanzado al segundo año de vida. Sin embargo, el perímetro cefálico del niño y la educación y trabajo materno sí han resultado relevantes : Background: The role of breast milk with regard to W3 long-chain polyunsaturated fatty acids and infant intellectual development remains controversial Patients and methods: Thirty-nine children born at term and from homogeneous sociocultural status were enrolled in a blind-prospective trial. Children were divided in two non-randomized groups: a breast-fed group and a standard formula-fed group. Red blood cell phospholipid fatty acids were analyzed at 7 and 60 days of life. Cognitive development was evaluated at the end of the second year of life through Bailey's test Results: Concentrations of phosphatidylethanolamine and phosphatidylcholine docosahexaenoic acid were significantly lower in the formula-fed group. No statistically significant differences between groups were found in cognitive function. Brain development index was significantly correlated with infant head circumference and educational status of the mother Conclusions: Maternal nutrition provides higher red blood cell do-cosahexaenoic acid, but is not related to a higher developmental quotient at the age of 2 years. However, infant head circumference and maternal educational status were correlated with developmental cognition

La acidemia propiónica es una alteración del metabolismo de los aminoácidos de cadena ramificada, la cadena lateral del colesterol y los ácidos grasos de cadena impar que conduce a la acumulación de metabolitos ácidos tóxicos. Las manifestaciones clínicas suelen comenzar poco después del nacimiento, aunque también en etapas más tardías. Nuestro caso se trata de un niño de 3 años con un inicio anormal, que a los 6 meses presentaba episodios de espasmos infantiles y un electroencefalograma hipsarrítmico. Se le trató con vigabatrina. A los 8 meses, la imagen de resonancia magnética mostraba un espacio subaracnoideo ensanchado, tálamos, globos pálidos y núcleo subtalámico con señal hiperintensa. Los análisis bioquímico y genético confirmaron acidemia propiónica. Se instauró tratamiento específico, en la actualidad no recibe tratamiento antiepiléptico y su electroencefalograma es normal. Este inicio de la acidemia propiónica es poco habitual y creemos que el tratamiento con vigabatrina protegió los ganglios basales de un daño excitotóxico irreversible. : Propionic acidemia is a disorder of branch-chain amino acids, the side chain of cholesterol and odd-chain fatty acid metabolism that leads to the accumulation of toxic acid metabolites. The clinical features typically begin shortly after birth, although they can also appear in young adulthood. We report the case of a 3-year-old boy with atypical onset, who at 6 months presented bursts of infantile spasms and a hypsarrhythmic electroencephalogram. He was treated with vigabatrin. At 8 months magnetic resonance imaging showed a wider than normal subarachnoidal space, and hyperintense thalamus, globus pallidus and subthalamic nucleus. Biochemical and genetic analysis confirmed propionic acidemia. Specific therapy was started and the patient is not currently under antiepileptic treatment and his electroencephalogram is normal. This onset of propionic acidemia is unusual, and we believe that treatment with vigabatrin protected the basal ganglia from irreversible excitotoxic damage.

Compare the variations of long-chain polyunsaturated fatty acids (LCPUFA) levels at birth and at the first year of age in children on extended breast-feeding, medium term breast-feeding and formula feeding.77 healthy term infants divided in three groups: A (N=25): extended breast-feeding (more than 6 months), B (N=26): medium term breast-feeding (more than 3 and less than 5 months) and C (N=26): exclusive formula feeding. Fatty acids in plasma were measured at birth and at the first year of age.There were no differences in the levels at birth. However, there is a significant decrease in the proportion of the main LCPUFA, docosahexaenoic acid (DHA) and arachidonic acid (AA), between birth and the first year of age. At one year of age, the percentage of DHA in Group A differs significantly between the other two: 2.46+/-0.84 vs. 1.80+/-0.48 and 1.89+/-0.75 (p0.01).1. At birth, there are no differences in LCPUFA. 2. A significant decrease in the main LCPUFA is observed with age. 3. The extended breast-feeding group shows higher DHA levels than the other two. Therefore, breast-feeding for more than 6 months is required to achieve higher plasma DHA values.

Propionic acidemia is a disorder of branch-chain amino acids, the side chain of cholesterol and odd-chain fatty acid metabolism that leads to the accumulation of toxic acid metabolites. The clinical features typically begin shortly after birth, although they can also appear in young adulthood. We report the case of a 3-year-old boy with atypical onset, who at 6 months presented bursts of infantile spasms and a hypsarrhythmic electroencephalogram. He was treated with vigabatrin. At 8 months magnetic resonance imaging showed a wider than normal subarachnoidal space, and hyperintense thalamus, globus pallidus and subthalamic nucleus. Biochemical and genetic analysis confirmed propionic acidemia. Specific therapy was started and the patient is not currently under anti-epileptic treatment and his electroencephalogram is normal. This onset of propionic acidemia is unusual, and we believe that treatment with vigabatrin protected the basal ganglia from irreversible excitotoxic damage.

Leigh syndrome is probably the most frequent metabolic disorder in infancy and childhood. The classic form of the disease is characterized by bilateral lesions of basal ganglia and brainstem. The extensive involvement of white matter, without radiological basal ganglia abnormalities, is an unusual manifestation of the disease.Four patients who presented the disease during the first year of life are described.The four patients presented a stereotyped clinical picture, consisting of regression of already acquired psychomotor abilities and very prominent pyramidal signs. These clinical manifestations and results of neuroimaging studies suggested a primary leukodystrophy. Increased values of lactic and piruvic acids suggested a mitochondrial disorder. Enzymatic studies confirmed a mitochondrial respiratory chain deficiency in two patients, and a pyruvate dehydrogenase complex defect in the remaining two patients. The pathological findings in the latter two sisters were consistent with the characteristic microscopic lesions of Leigh syndrome, but with atypical distribution.Diagnosis of Leigh syndrome must be taken into consideration in infants presenting with a leukodystrophic clinical and radiological pattern, despite the lack of basal ganglia involvement.

To evaluate changes in the fatty acid composition of red blood cell phospholipids in breast-fed infants compared with those in infants fed with different formulas (conventional, omega -6-enriched formula, omega -6- and omega -3-enriched formula and nucleotide-enriched formula).Thirty-seven healthy term infants were randomly assigned to one of five different feeding groups. Weight, length, head circumference, and arm circumference were assessed at 7 and 60 days of age. The fatty acid composition of the infants' red blood cell phosphatidylcholine (PC) and phosphatidylethanolamine (PE) were analyzed at these ages.The anthropometric variables studied showed no changes among the different groups. At 60 days old, arachidonic acid concentration (20:4 omega -6) was lower in non-omega -6 enriched formula-fed groups compared with that in the breast-milk fed group (4.03, 3.68 and 5.15 vs 7.20 g/100 g of fatty acids). Docosahexaenoic acid concentration (22:6omega -3) in both PC and PE clearly decreased in the non-omega -3 formula-fed groups compared with that in the breast-milk fed group (PC: 0.72 vs 2.82 g/100 g of fatty acids and PE: 5.15 vs 7.73 g/100 g of fatty acids).This study demonstrates differences in the fatty acid composition of red blood cell phospholipids between breast-milk fed infants and those fed with any of the artificial formulas available on the Spanish market. These data provide evidence of the influence of diet on certain essential fatty acids in the body.

The role of breast milk with regard to W3 long-chain polyunsaturated fatty acids and infant intellectual development remains controversial.Thirty-nine children born at term and from homogeneous sociocultural status were enrolled in a blind-prospective trial. Children were divided in two non-randomized groups: a breast-fed group and a standard formula-fed group. Red blood cell phospholipid fatty acids were analyzed at 7 and 60 days of life. Cognitive development was evaluated at the end of the second year of life through Bailey s test.Concentrations of phosphatidylethanolamine and phosphatidylcholine docosahexaenoic acid were significantly lower in the formula-fed group. No statistically significant differences between groups were found in cognitive function. Brain development index was significantly correlated with infant head circumference and educational status of the mother.Maternal nutrition provides higher red blood cell docosahexaenoic acid, but is not related to a higher developmental quotient at the age of 2 years. However, infant head circumference and maternal educational status were correlated with developmental cognition.

We report three patients with glutaric aciduria type I. The biochemical diagnosis of two cases was revealed by determination of free glutaric acid in urine, by using the CG/EM method. In the third patient, however, these levels were only slightly increased and the diagnosis was attained by the determination of total glutaric acid and glutaryl-carnitine. Serum carnitine levels were decreased in two cases. Clinical symptoms of this type of organic acidemia are highlighted by an acute or subacute presentation with signs of dysfunction of the neostriatum, simulating a cerebral paralysis with extrapyramidal signs. Homozygous patients have been reported with the same biochemical and enzymatic activity findings, but these patients were neurologically asymptomatic throughout life. Other features suggestive of the disease are macrocephaly associated with a widening of the subarachnoid spaces. Riboflavin and carnitine administration to these patients seems to prevent new bouts of neurological dysfunction.

Thirty-seven offspring of patients who had acute myocardial infarctions were investigated. Serum fatty acids of the whole plasma lipids were evaluated within the frame of a full biochemical assessment. Baseline values were obtained and the children were subsequently put on appropriate diets and advised to cut-out smoking and alcohol. The same values were obtained following one year on such a regimen. Results were compared with those found in a control group. Baseline palmitoleic and dihomogammalinolenic acid serum levels were significantly raised in the study group. Values of palmitoleic, but not of dihomogammalinolenic acid, had returned to normal by the reassessment one year later.

We report six cases of Ornithine-transcarbamylase deficiency. Unlike some classical descriptions but in accordance with recent reports, sex had no determinant influence on the outcome.

Fatty acid composition of different lipidic fractions was studied in 42 samples of human milk corresponding to: colostrum 10, mature milk 10, milk from mothers of preterm infants with adequate weight for gestational age 10, milk from mothers or low-birth-weight infants 6 and milk inducing prolonged jaundice 6. Findings have been compared with previous data of literature. Nutritional and physiologic implications are discussed.