By Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
JIMD studies publishes case and brief study experiences within the zone of inherited metabolic issues. Case reviews spotlight a few strange or formerly unrecorded characteristic correct to the disease, or function an immense reminder of medical or biochemical positive factors of a Mendelian disorder.
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Additional resources for JIMD Reports, Volume 28
Arch Dis Child 86:411–415 Lane TN, Mary MD, Sparker MK, Sareeta S, Parker MD (2007) Propionic Acidemia manifesting with low isoleucine generalized exfoliative dermatosis. Pediatr Dermatol 24:508–510 North K, Korson M, Yosodha R, Rohr FJ, Brazelton TB, Waisbren SE, Warman ML (1995) Neonatal-onset propionic acidemia:and neurological and developmental profiles and implications for management. J Pediatr 126:916–922 Orwoll ES (1992) The effects of dietary protein insufficiency and excess on skeletal health.
Median isoleucine mmol/L (range) Anthropometric Measurements % < Reference range (160–350 mmol/L) The median (range) combined intake of docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) was 226 mg/ day (44–282). The median (range) intake of arachidonic acid (AA) was 53 mg/day (16–67). For DHA and EPA, the recommended daily intake is 100–150 mg from 2 to 4 years, 150–200 mg for 4–6 years and 200–250 mg/day from 6 to 10 years (EFSA 2009). The EFSA has not set a recommended intake for AA.
JIMD Reports The number of hospital admissions, reason for admission and length of stay were recorded from the time of diagnosis to December 2013. The use of protein-free emergency regimens was also gathered from medical and dietetic records. All nutritional biochemistry and haematology tests, including plasma zinc, selenium, C-reactive protein, quantitative plasma amino acids, ferritin, haemoglobin and MCV, were documented. This was registered as an audit project with Birmingham Children’s Hospital Clinical Governance Department.