Breast feeding in organic acidaemias

Breast feeding has been recommended for the dietary treatment of infants with organic acidaemias, but studies documenting clinical experience are still very few. Nine infants, diagnosed with methylmalonic acidaemia (n = 4), propionic acidaemia (n = 1), isovaleric acidaemia (n = 2) and glutaric acidaemia type I (n = 2) were breast fed after diagnosis. The age of the patients was 28.9 +/- 13.4 months (mean +/- SD) (range 10-57 months). Eight patients were diagnosed with clinical symptoms and one because of an affected sibling. After the control of acute metabolic problems, an initial period with a measured volume of expressed breast milk was continued with on-demand breast feeding with the addition of a special essential amino acid mixture and energy supplements. Breast feeding was well tolerated in seven infants with good growth, metabolic control and neurological outcome. The duration of breast feeding was 12.3 +/- 7.4 months (mean +/- SD) (range 4-24 months) in these patients. Breast feeding was terminated in the patient with propionic acidaemia because of two acute metabolic episodes requiring hospitalization, and could not be continued in one of the patients with isovaleric acidaemia owing to shortage of breast milk. A decrease in the frequency of infections, acute metabolic episodes and hospital admissions was observed in breast-fed infants. Breast feeding of infants with organic acidaemias is feasible with close monitoring of clinical parameters such as growth, development and biochemistry, including amino acids, organic acids and ammonia

Longitudinal analyses of blood-lead levels and risk factors for lead poisoning in healthy children under two years of age

This study aimed to determine the risk factors for lead poisoning of infants living in Istanbul. It was a longitudinal study conducted between March 1998 and September 2000 at the "Well-Child Unit" based at the Istanbul Medical School. During the study period, a total of 242 newborns were registered and 220 of them met the eligibility criteria. The families of 199 infants gave consent for this study. At the end of two years, 131 infants had completed the study. Blood samples were collected when the infants were aged 1, 6, 12, and 24 months. All samples were assessed using atomic absorption spectrophotometry. Blood-lead levels (BLL) increased with age. The maximum BLL was observed at 24 months. There was no infant with a BILL above 10 mug dL(-1) at one-month of age but this figure was exceeded for 0.5% of the cohort at 6 months, 1.1% at 12 months and 11.5% at 24 months

Adult phenotype and further phenotypic variability in SRD5A3-CDG.

Background: SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. All the mutations are recessive and truncating

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency

Two cases of molecular genetically proven lipoprotein lipase deficiency are reported. Both patients were detected owing to a false-positive neonatal screening test for biotinidase deficiency. We conclude that both the fluorimetric and the colorimetric screening tests for biotinidase deficiency used with dried blood samples are affected by severe hyperchylomicronaemia and that, most probably, severe plasma turbidity interferes with the assay

Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry

Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated 'leucine' level in newborn screening by tandem mass spectrometry

Analysis of the thymus in 151 healthy infants from 0 to 2 years of age

Objective. A prospective sonographic study of the normal thymus was performed to determine the size changes with age and to compare the results according to some clinical conditions, such as sex, breast versus formula feeding, and term or preterm status. Methods. One hundred fifty-one healthy infants underwent thymic sonography Maximal transverse and longitudinal dimensions and anteroposterior dimensions of the right and left lobes were measured, and thymic indices were calculated. Mean values of thymic measurements for each group (sex, age, breast or formula feeding, and term or preterm status) were determined. The results were statistically evaluated. Results. Thymic dimensions showed the maximal values at about 4 to 6 months and gradually decreased after 6 to 8 months. No significant differences were found between mean values of thymic dimensions according to the sex and formula- versus breast-fed groups. As expected, the term group had greater thymic size values than the preterm group, probably because of positive correlations between thymus size, birth weight, and height. Conclusions. The thymus is clearly and easily visualized on sonography in the 0- to 2-year age period. This may be useful for evaluating qualitative and quantitative properties of the thymus and determining size changes according to age in various clinical conditions

Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI.

Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic, and multisystem lysosomal storage disease. Enzyme replacement therapy (ERT) with the recombinant human arylsulfatase B enzyme (galsulfase [Naglazyme]) is recommended as first-line therapy. It is generally reported as safe and well tolerated. Frequently observed mild to moderate infusion-related reactions which can be easily handled by reducing or interrupting the infusion and/or administering additional antihistamines, antipyretics, and corticosteroids are mostly mediated by non-IgE mechanisms. Here we report two children with MPS VI who experienced IgE-mediated reactions with galsulfase at the second year of the therapy. One child had anaphylaxis and the other had urticarial eruptions. They could receive ERT after successful rapid desensitization. To our knowledge, this is the second report on galsulfase allergy with IgE-mediated reaction. It is important to recognize IgE-mediated reactions since they can be life-threatening and do not respond to the standard therapies. We recommend allergy skin tests in the evaluation of infusion-related reactions unresponsive to standard therapies, so that continuation of ERT will be feasible after successful desensitization

Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases

We report 32 biotinidase-deficient patients detected by family studies in the index cases. The study group consisted of 10 mothers, 4 fathers and 18 siblings. There were 17 individuals (3 mothers, 4 fathers and 10 siblings) with profound biotinidase deficiency (BD) (< 10% of mean normal activity) and 15 (7 mothers and 8 siblings) with partial BD (10-30% of mean normal activity). In the profound BD group, only three siblings were symptomatic. Dermatitis, microcephaly, developmental delay and convulsions were observed. The patients with partial BD did not have any clinical symptoms except one sibling with borderline IQ score. None of the parents was symptomatic. Family investigation of patients with BD is very important for the detection of asymptomatic patients who are at risk of exhibiting symptoms at any age. Careful evaluation of these untreated individuals with BD is important to obtain additional information about the natural history of this disorder and may provide clues to phenotype-genotype relationships and treatment regimes

Prediction of premature atherosclerosis by endothelial dysfunction and increased intima-media thickness in glycogen storage disease types Ia and III.

The aim of this study was to investigate the endothelial dysfunction (ED) and carotid intima-media thickness (IMT) in patients with glycogen storage disease (GSD) types Ia and III

Measurement of serum vitamin B12-related metabolites in newborns: implications for new cutoff values to detect B12 deficiency.

Objective: Our aim was to determine the prevalence of maternal and neonatal vitamin B12 (vit-B12) and folate deficiencies, a new cutoff value of serum vit-B12 in newborns using vit-B12-related metabolites and also cutoff values of homocysteine (Hcy), propionyl (C3) carnitine, and methyl malonic acid (MMA) in newborns using a vit-B12 cutoff value of 200 pg/mL. Methods: Healthy pregnant women (without iron deficiency) and 98 healthy, term, singleton babies were included. Blood samples were obtained from women 0-8 h before birth and from cord blood during birth for hemogram and to measure serum vit-B12, folate, and Hcy levels. Maternal and cord blood serum vit-B12 levels were classified as low = 300 pg/mL. Neonatal urine MMA levels were analyzed in mothers with a vit-B12 concentration < 300 pg/mL. C3 carnitine levels of newborns were acquired from extended newborn screening. Receiver operating characteristics curve (ROC) analysis was used for serum vit-B12, urine MMA, C3 carnitine, and Hcy. Results: Of total, 98 pregnant women (28.6 +/- 5.5-year-old) and 98 newborn were included. Vit-B12 level was lower than 300 pg/mL in 93% of the pregnant women and 61% of cord blood samples. Folate deficiency was not found in either group. There was statistically significant negative correlation between baby C3 carnitine, cord blood folate (r = -0.265, p = .008) and cord blood vit-B12 (r = -0.220, p = .029). In backward stepwise linear regression analysis, maternal vit-B12 level exerted the most marked effect on cord blood vit-B12 level (adjusted R-2 = 0.457). In ROC analysis, the Hcy cutoff value was 4.77 mu mol/L (68.4% sensitivity, 58.3% specificity, p = .012) for the detection of vit-B12 deficiency. Conclusion: Vit-B12 deficiency remains an important health issue for pregnant women and newborns. Our study revealed a cutoff value for Hcy for the detection of nutritional vit-B12 deficiency that could be used in practice for newborns