Biomedical subjects

Paulina Mabe

Publications and source records attributed to Paulina Mabe.

4 recordsLinked to original sources

PubMed2004

Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests.

BACKGROUND: The mucopolysaccharidosis (MPS) are a group of inherited metabolic disorders resulting from the deficiency of the enzyme responsible for intralysosomal catabolism of glycosaminoglycans (GAGs). GAGs are progressively accumulated in multiple tissues and released into the corporal fluids. The first laboratory approximation to MPS diagnosis is the identification of an increased urinary GAG excretion. For this, several semiquantitative and quantitative methods have been developed. The aim of this retrospective statistical study was to evaluate the reliability of MPS urine screening for the semiquantitative Berry spot test (BST) and the quantitative dimethylmethylene blue test (DMB). METHODS: The 24-h-urine samples (n = 246) were tested through BST, DMB, and for GAG excretion pattern by one-dimensional electrophoresis or thin layer chromatography. RESULTS: the 204 samples that demonstrated a normal GAG excretion pattern were considered as non-MPS samples. Forty-two samples presented an abnormal GAG excretion pattern. Enzyme analysis was available for 31 out of 42 patients (31/42), confirming that all were affected by MPS. Urinary GAG concentrations of MPS patients by DMB were increased 1.04- to 7.1-folds, compared to age-related normal levels. The sensitivity was 100% for DMB and 93.6% for BST. DMB demonstrated a specificity of 74.5%, while BST a specificity of 53.9%. The specificity of MPS screening increased to 84.3%, considering conjunctly DMB and BST. CONCLUSION: The DMB is a sensitive method, however, inclusion of BST could increase the specificity of MPS urine screening.

Chromatography, Thin Layer↗

PubMed2003

[Mucolipidoses type II. Case report].

We report a female newborn with type II mucolipidoses. This condition is characterized clinically by Hurler like features, progressive psychomotor retardation and death during the first or second year of life. Most cases present during the first year of life, with poor weight gain and coarse facies features. The cause of this rare autosomal recessive hereditary disease is the deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, required for the synthesis of mannose-6-phosphate, the ligand that allows the transport of acid hydrolases into lysosomes. The patient had clinical features commonly found in mucolipidosis II, including disproportionate dwarfism, retarded psychomotor development, coarse facies features, gibbous and restricted joint mobility. The diagnosis was proved by an extremely elevated activity of lysosomal enzymes in the serum, secondary to non-regulated secretion and subsequent intracellular depletion of these proteins. The child suffered recurrent pneumonia and died at 22 months of age.

Female↗

PubMed2003

[Phenylketonuria diagnosed during the neonatal period and breast feeding].

BACKGROUND: Phenylketonuria (PKU) is due to of a defect in the phenylalanine hydroxylase gene (12q22-24.1) leading to hyperphenylalaninemia. Treatment consists in a low phenylalanine (Phe) diet. AIM: To evaluate the evolution of early diagnosed PKU children, receiving direct breast feeding, and a special formula without Phe, during their first six months of life. PATIENTS AND METHODS: Nineteen PKU children diagnosed in the neonatal period (19.29 +/- 13.8 days of age), treated with breast feeding and formula without Phe since diagnosis, were studied. Intake of calories, proteins and dietary Phe were quantified. Blood Phe, nutritional status and psychomotor development were also measured. RESULTS: The diet that these children received during the 6 months period of study, had a mean of 127 +/- 19.9 Kcal/kg/day, 1.95 +/- 0.3 g protein/kg/day and 35.3 +/- 9.5 mg Phe/kg/day. Fifteen children maintained the blood level of Phe under 8 mg/dl, considered an excellent metabolic control. Only 4 cases had intermittently high levels, between 10-12 mg/dl. At 6 months of age, 74% of the children maintained breast feeding as the only source of Phe. Sixty three percent had a normal nutritional status, 5.2% were at nutritional risk and 31.6% were overweight. Eighty one percent had a normal mental development. CONCLUSIONS: The use of direct breast feeding allows a good metabolic control and improves growth and development of early diagnosed PKU children.

Breast Feeding↗

PubMed2002

[Diagnosis and follow up of 23 children with organic acidurias].

BACKGROUND: Propionic aciduria (PA) and Methymalonic aciduria (MMA) result from an inherited abnormality of the enzymes propionyl CoA carboxylase and methylmalonyl CoA mutase respectively. This produces marked increases in the amino acids methionine, threonine, valine and isoleucine (MTVI). Their clinical presentation can be neonatal or late onset forms. AIM: To report 23 children with organic acidurias. MATERIAL AND METHODS: Twenty three cases of organic acidurias diagnosed since 1980 (17 PA and 6 MMA) and followed at the Institute of Nutrition and Food Technology, are reported. RESULTS: The average age of diagnosis was 3.9 days for the neonatal form and 8.3 months for the late onset form. The most frequent symptoms were hypotonia, lethargy and vomiting. Neonatal PA had mean ammonemias of 1089 +/- 678.3 micrograms/dl. The figure for MMA was 933 +/- 801.9 micrograms/dl. Seven children were dialyzed and 30% died. 16 children are followed and 81.2% have normal weight for age. Seven children required gastrostomy because of anorexia and failure to thrive. The nutritional treatment is based on natural and artificial proteins without MTVI, with periodical controls, amino acid and ammonia quantification. Some patients were submitted to enzyme assays and molecular studies. CONCLUSIONS: An early diagnosis and a very strict follow up allows a normal development of children with organic acidurias. There is a relationship between prognosis and the presentation form, the nutritional status and the emergency treatment during acute episodes. The importance of the enzymatic and molecular studies is emphasized because they facilitate treatment, accurate diagnosis and allow an adequate genetic counseling.

Carboxy-Lyases↗