BACKGROUND Early detection of white matter lesions in childhood-onset cerebral adrenoleukodystrophy (ALD) is important as hematopoietic cell transplantation (HCT), currently the only effective treatment, is beneficial only if performed early in the disease course. OBJECTIVE To establish reliable biochemical markers of cerebral disease progression in patients with ALD to aid in treatment plann...

INTRODUCTION Inborn errors of metabolism (IEM) are traditionally defined by enzymatic deficiencies or defects in proteins involved in cellular metabolism. Historically discovered and characterized in children, a growing number of IEM are described in adults, and especially in the field of neurology. In daily practice, it is important to recognize emergency situations as well as neurodegenerativ...

UNLABELLED X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition caused by mutations in the ABCD1 gene that result in accumulation of very long chain fatty acids (VLCFAs) in various tissues. This leads to demyelination in the CNS and impaired steroidogenesis in the adrenal cortex and testes. A 57-year-old gentleman was referred for the assessment of bilateral gynaecomastia of 6 mont...

skin, starting from face since the age of 4 years. There was history of recurrent episodes of loose motions, vomiting and fever after the age of 4 years in the elder sibling for which he was hospitalized in a state of shock. Family history, perinatal history and developmental history were non-contributory. General and systemic examinations were unremarkable except for the generalized hyperpigme...

PURPOSE To determine the potential of proton MR spectroscopy to monitor patients with childhood-onset cerebral adrenoleukodystrophy (COCALD). METHODS Single-voxel MR spectroscopy was performed in 16 children with COCALD (24 examinations) who had had no treatment and in 7 children (13 examinations) who had had bone marrow transplantation. RESULTS In the untreated children with clinically act...

We have demonstrated the increased C26:0/C22:0 ratio in the fatty acids of sphingolipid fraction in dried blood spots on filter paper from the patient with adrenoleukodystrophy. The ratio of C26:0/C22:0 in the dried blood spots from the patient was 2.1-fold higher than those of the normal controls. This value was almost the same as the ratio in erythrocyte membrane sphingomyelin from the patien...