JIMD Reports - Case and Research Reports, 2011/2 by Ariadna González-del Angel (auth.)

By Ariadna González-del Angel (auth.)

JIMD reviews publishes case and brief learn studies within the sector of inherited metabolic issues. Case reviews spotlight a few strange or formerly unrecorded characteristic appropriate to the affliction, or function a massive reminder of scientific or biochemical positive aspects of a Mendelian disorder.

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A) patient 1, (b) patient 2, (c): patient 3, and (d): patient 4. Each patient received standard daily calorie intake appropriate for his or her age. Closed circles, triangles and squares represent body weight, levels of serum cholinesterase (ChE), and levels of serum total bile acids (TBA), respectively. Open circles, triangles and squares in Fig. 1d represent levels of serum alkaline phosphatase (ALP), pancreatic secretory trypsin inhibitor (PSTI), and alpha-fetoprotein (AFP), respectively. Arrowheads indicate the ages at testing of the patients described in Table 1 Patient 4 mild jaundice and hepatomegaly, 7 cm below the costal margin.

A postsurgical inflammatory reaction may facilitate the inclusion of abnormal fatty acids in myelin. The opening of the blood–brain barrier following neurosurgery may enhance the recognition of previously sequestered antigens considered to play a role in ALD onset. Consequently, neurosurgical disruption of the BBB can precipitate the immune-mediated inflammatory process, which progressively destroys myelin in ALD patients. Tumor-related chemotherapy and/or radiotherapy may also play a contributing role.

J Inherit Metab Dis 15:645–664 Moser HW, Mahmood A, Raymond GV (2007) X-linked adrenoleukodystrophy. Nat Clin Pract Neurol 3:140–151 Mosser J, Douar AM, Sarde CO et al (1993) Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361:726–730 Ochi K, Noda K, Kawakami H, Oka M, Imon Y, Mimori Y, Nakamura S (1998) Dentato-rubral tract involvement in adult-onset adrenoleukodystrophy. AJNR Am J Neuroradiol 19:1904 Raymond GV, Seidman R, Monteith TS, Kolodny E, Sathe S, Mahmood A, Powers JM (2010) Head trauma can initiate the onset of adreno-leukodystrophy.

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