ABCMdb

ABCD1 p.Leu107Pro

Predicted by SNAP2:	A: D (80%), C: D (63%), D: D (95%), E: D (91%), F: D (80%), G: D (95%), H: D (95%), I: D (71%), K: D (95%), M: D (59%), N: D (95%), P: D (95%), Q: D (91%), R: D (95%), S: D (91%), T: D (91%), V: D (75%), W: D (91%), Y: D (91%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D,

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Publications
[hide] Variability of endocrinological dysfunction in 55 ... Eur J Endocrinol. 1997 Jul;137(1):40-7. Korenke GC, Roth C, Krasemann E, Hufner M, Hunneman DH, Hanefeld F
Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.
Eur J Endocrinol. 1997 Jul;137(1):40-7., [PMID:9242200]

Abstract [show]
X-linked adrenoleucodystrophy (ALD) has been shown to be one of the most frequent causes of Addison's disease in men. It is characterized by an impaired peroxisomal beta-oxidation of very long chain fatty acids and is associated with mutations of the ALD gene resulting in a defective peroxisomal membrane transport protein. There is a striking variability of endocrinological and neurological symptoms in patients with ALD, with no clearly evident correlation between mutations of the ALD gene and the different neurological phenotypes. No data on endocrinological symptoms and the ALD genotype have been published so far. We report endocrinological, clinical, laboratory and molecular genetic data from 55 patients with ALD from 34 families. Endocrinological symptoms of adrenal insufficiency were observed in 33 patients, 20 of whom showed additional neurological symptoms of cerebral ALD or adrenomyeloneuropathy. Isolated neurological symptoms were seen in 12 patients; in nine patients there were neither endocrinological nor neurological symptoms. Mutations of the ALD gene (n = 28) were detected in 50 patients (including nine sets of brothers) from 32 families. No correlation was found between the ALD gene mutation and endocrinological dysfunction. However, we found that all sets of brothers were concordant for the endocrinological phenotype (cortisol synthesis was reduced in two sets and normal in seven sets), whereas four sets showed a discordant neurological phenotype. As yet unknown hereditary factors other than mutations within the ALD gene may interfere with the endocrinological phenotype more strongly than with the neurological phenotype of ALD.

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Sentences [show]
No. Sentence Comment
118 Start of Cortisol Start of Age at endocrine Basal increase neurological examination symptoms ACTH cortisol after i.v. ACTH symptoms ALD gene Patient (year-month) (year-month) (pmol/l) (nmol/l) (nmol/l) (year-month) mutation 1a 9-05 6-08 223 179 0 7-02 cALD 2252-10 G-A 1b 13-03 9-05 41 331 41 9-05 cALD 2252-10 G-A 2a 26-01 - 6 386 221 - R418W 2b 27-10 - 6 461 229 11-00 cALD R418W 3a 11-06 6-00 536 138 8 - S606L 3b 11-06 6-00 423 143 11 10-10 cALD S606L 4a 4-04 2-09 >330 127 141 - R617C 4b 5-06 3-11 >330 97 50 - R617C 4c 7-10 5-05 >330 50 6 6-03 cALD R617C 5a 10-06 - 8 433 290 8-02 cALD del 1257-9 5b 17-07 - 9 637 629 - del 1257-9 6a 27-00 24-00 >320 30 11 18-03 AMN L107P 6b 32-10 - 47 279 185 19-01 AMN L107P 7a 34-08 - 48 469 350 24-00 AMN R418W 7b 36-05 - 43 486 201 28-00 AMN R418W 8a 14-05 - 33 287 94 - 1801 del AG 8b 16-10 - 14 348 149 - 1801 del AG 9a 13-07 5-10 1094 36 6 - 740 del G 9b 157-04 1241 63 11 - 740 del G cALD, cerebral adrenoleucodystrophy; AMN, adrenomyeloneuropathy; -, no symptoms. Login to comment