Titlebook: JIMD Reports, Volume 39; Eva Morava (Editor-in-Chief),Matthias Baumgartner, Book 2018 Society for the Study of Inborn Errors of Metabolism

漂浮

Book 2018JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

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https://doi.org/10.1007/978-3-662-57577-2inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic

Inordinate

Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorptistration. We report our experience in achieving normal (age dependent) CSF 5-Methyltetrahydrofolate (5-MTHF) levels following daily intramuscular administration of levofolinic acid in three patients with HFM. Follow-up assessment with repeated lumbar punctures has shown a stabilization of 5-MTHF lev

conspicuous

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patientof the disease in Estonian population is 1/77,000. It is comparable to the current prevalence of PMM2-CDG for the less than 18 years age group, which is 1/79,000. In conclusion, the frequency of PMM2-CDG in Estonia is lower than in other European populations reported thus far. We demonstrate that bi

Crohns-disease

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms,nt of acute renal failure most likely due to haemolytic uraemic syndrome associated with a pneumococcal infection. We hypothesise that known GA1 pathomechanisms, namely the endothelial dysfunction mediated by 3OHGA, as well as the transporter mechanisms for the urinary excretion of GA and 3OHGA, are

PIZZA

BUST

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two vealed compound heterozygous variants in .. Fibroblast studies for beta-ketothiolase enzyme activity were confirmatory. The second patient presented at 6 months of age with ketoacidosis, and was found to have elevations of urinary 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, and tiglylg

Benign

Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantie symptoms and consanguineous familial pedigree, extensive biochemical and genetic investigation was undertaken to ensure no alternative pathology was elucidated. In light of these findings, we review the radiology and post-mortems of previous cases and discuss the potential mechanisms that may unde

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parallelism

Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome],ildren. Thirty-six per cent scored in the mild-to-moderate range, suggesting milder, but marked, difficulties in social interaction. Although children with MPS-IH did not show significantly higher rates of internalising, externalising or total behaviour problems than the normative sample, they recei