Titlebook: JIMD Reports, Volume 44; Eva Morava,Matthias Baumgartner,Verena Peters Book 2019 Society for the Study of Inborn Errors of Metabolism (SSI

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The Second Case of Saposin A Deficiency and Altered Autophagy, course within the first months of life in the classic infantile form. This process may be triggered by the accumulation of galactosylceramide (GalCer) in nervous tissues. Both the enzyme galactosylceramidase and its in vivo activator molecule, saposin A, are essential during GalCer degradation. A c

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BROOK

Cobalamin D Deficiency Identified Through Newborn Screening,nic aciduria, or combined methylmalonic aciduria and homocystinuria (cblD-combined). Only seven cases of the combined cblD form have been reported to date. Due to the rarity of this disorder, the presentation and symptoms are not well described. We present an eighth case of the cblD-combined subtype

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Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties,atient, with a relatively mild phenotype. He presented at 5?years of age with bilateral posterior cataracts, which were managed with lensectomies and intraocular lens implants. He also had learning difficulties, with a full-scale IQ of 64 at 11?years of age. His head circumference is between the 0.4

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, Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients,myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Most patients have a very severe disease course, wh

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Enzyme Replacement Therapy During Pregnancy in Fabry Patients,-3) accumulation in lysosomes and in placenta and umbilical cord. Impact of FD and treatment with enzyme replacement (ERT) on foetal development is undisclosed..A 38-year-old primigravida with FD (G85N) is reported. She has 50% reduced alpha-galactosidase A activity and elevated plasma and urine-Gb-

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Reversible Cerebral White Matter Abnormalities in Homocystinuria,changes (WMC) are linked to elevated plasma methionine levels arising during treatment..A 6-year-old boy with learning difficulties and a normal MRI brain scan was diagnosed with homocystinuria (initial total homocysteine 344?μmol/L and methionine 64?μmol/L). At the age of 6.5?years, he developed su