By Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters

JIMD stories publishes case and brief examine stories within the region of inherited metabolic issues. Case studies spotlight a few strange or formerly unrecorded characteristic appropriate to the illness or function a massive reminder of scientific or biochemical beneficial properties of a Mendelian disorder.

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Extra resources for JIMD Reports, Volume 15

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She was not able to walk unsupported until the age of 5. She experienced frequent oculogyric crises, often precipitated by tiredness and a myasthenia-like phenotype milder than patient 1. Notwithstanding some learning difficulties, she reached a secondary school educational level with special teaching support. She suffered from headache and orthostatic hypotension since adolescence. Hyperprolactinemia was detected at the age of 17. Upon examination at the age of 22, she showed mild dysarthria, bradylalia, fluctuating palpebral ptosis, multifocal myoclonic jerks, orthostatic hypotension, moderate muscular weakness with fatigability, unsupported gait, and balance JIMD Reports 41 Table 1 Biochemical and molecular alterations in members of the reported family Sample Exama Reference range Subject/age (years) (Fig.

J Pediatr 138(3):390–395 Wexler ID, Hemalatha SG, McConnell J et al (1997) Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations. Neurology 49(6): 1655–1661 Wicking CA, Scholem RD, Hunt SM, Brown GK (1986) Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase. 1007/8904_2014_294 RESEARCH REPORT Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes Kelly D.

26 Compliance with Ethics Guidelines Conflict of Interest All the authors of this chapter declare that there are no conflicts of interest. Details of the Contributions of Individual Authors Sanne Van Dongen: Reviewed the literature, reviewed all patients’ records, collected data into Excel spreadsheets, wrote first manuscript and corrected and rewrote subsequent versions. Reviewed the final version and approved it. Ruth Brown: Performed mutation analysis, reviewed mutations results and participated in writing the methods, results and discussion sections.

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