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Biomedical subjects

P Sanjurjo Crespo

Publications and source records attributed to P Sanjurjo Crespo.

13 recordsLinked to original sources
PubMed2005

[Infantile spasms as the first manifestation of propionic acidemia].

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.

Age of Onset↗
PubMed2003

[Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?].

INTRODUCTION: 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. OBJECTIVE: Four patients who presented the disease during the first year of life are described. PATIENTS AND METHODS: 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. CONCLUSION: 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.

Dementia, Vascular↗
PubMed2002

[The influence of human milk and various artificial formulae commercially available in Spain on the fatty acid status of infants in the first two months of life].

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, omega -6-enriched formula, omega -6- and omega -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 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). 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.

Anthropometry↗
PubMed2001

[Diagnostic approach and treatment of inherited mitochondrial fatty acid oxidation disorders].

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).

3-Hydroxyacyl CoA Dehydrogenases↗
PubMed2000

[Intellectual development in the second year of life in healthy breast-fed children compared with formula-fed children].

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 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.

Breast Feeding↗
PubMed1993

[Glutaric aciduria type I].

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.

Amino Acid Metabolism, Inborn Errors↗
PubMed1992

[Cardiovascular risk in the pediatric population. Plasma fatty acid levels].

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.

Adolescent↗
PubMed1983

[Lipid study of different types of maternal milk].

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.

Colostrum↗