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JIMD Reports, Volume 28

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Cover of 'JIMD Reports, Volume 28'

Table of Contents

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    Book Overview
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    Chapter 443 The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?
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    Chapter 492 Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.
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    Chapter 496 Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice.
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    Chapter 499 Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency
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    Chapter 501 Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate.
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    Chapter 502 Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy
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    Chapter 503 In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.
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    Chapter 505 Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.
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    Chapter 506 Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS
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    Chapter 511 JIMD Reports, Volume 28
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    Chapter 512 Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014)
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    Chapter 514 Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.
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    Chapter 515 LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
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    Chapter 516 In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.
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    Chapter 518 Multiple, Successful Pregnancies in Pompe Disease.
Attention for Chapter 506: Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS
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Chapter title
Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS
Chapter number 506
Book title
JIMD Reports, Volume 28
Published in
JIMD Reports, January 2015
DOI 10.1007/8904_2015_506
Pubmed ID
26537576
Book ISBNs
978-3-66-252846-4, 978-3-66-252847-1
Authors

Carlos R. Ferreira, Molly H. Silber, Taeun Chang, Jonathan G. Murnick, Brian Kirmse, Ferreira, Carlos R., Silber, Molly H., Chang, Taeun, Murnick, Jonathan G., Kirmse, Brian

Abstract

The majority of lipids in the brain are located in the bilayer membranes. These lipids are not visible by magnetic resonance spectroscopy since they have restricted mobility. Only mobile lipids, such as cholesterol esters or triglycerides in neutral lipid droplets, have enough rotational freedom to generate a signal on spectroscopy. These signals are detected as peaks at 1.3 ppm, originating from the methylene groups in the fatty acid chain, and 0.9 ppm, originating from the distal methyl group. We review the literature on the different genetic conditions that have been found to show lipid peaks on brain spectroscopy and report the first patient with carnitine palmitoyltransferase 2 deficiency shown to have such lipid peaks, thus indicating brain fat accumulation.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 10 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 3 30%
Student > Ph. D. Student 2 20%
Student > Bachelor 2 20%
Student > Doctoral Student 2 20%
Unknown 1 10%
Readers by discipline Count As %
Neuroscience 2 20%
Medicine and Dentistry 2 20%
Pharmacology, Toxicology and Pharmaceutical Science 1 10%
Physics and Astronomy 1 10%
Nursing and Health Professions 1 10%
Other 2 20%
Unknown 1 10%

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