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JIMD Reports, Volume 28 by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima

By Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters

JIMD stories publishes case and brief examine experiences within the sector of inherited metabolic issues. Case experiences spotlight a few strange or formerly unrecorded function proper to the affliction, or function a major reminder of scientific or biochemical positive aspects of a Mendelian disorder.

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5 g/kg/ day natural protein, they comfortably met their safe levels of branched-chain amino acid intake (WHO/FAO/UNU 2007). Fibre intake was low, with frequent use of laxatives. Optimal fluid intake was not achieved: many failed to drink orally, and when extra fluid was added to feeding regimens, vomiting and retching were common. A combined effect of low fibre intake, use of L-amino acid formula and low fluid intake may be a causal factor of constipation. Other factors such as patient hypomobility and muscle hypotonia may also contribute.

Armonk, New York, USA) was used to calculate median and range for concentrations of glucose and KB. 6 mmol/L (Koh et al. 1988). Total KB was defined as the sum of blood acetoacetate and b-hydroxybutyrate concentrations. If the product of glucose and KB concentrations was greater than 10, a ketolysis defect was suspected (Touati et al. 2012). Results Table 1 presents patient characteristics from 12 patients with GSD type III (n ¼ 4), type VI (n ¼ 3), and type IX (n ¼ 5), in whom a total of 13 supervised clinical fasting studies were performed.

2 years of age: weight by standing and sitting on Seca electronic scales (accurate to two decimal places) and height by a calibrated stadiometer (accurate to one decimal place). In children <2 years of age, measurements were taken without their clothes on: weight by Seca infant scales (accurate to two decimal places) and supine length on a Seca measuring mat (accurate to one decimal place). 90% of energy requirements by enteral tube feeds) were included. Eight were diagnosed with PA, five with non-vitamin B12-responsive MMA (three had mut0 activity) and one with IVA.

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