He presents language disturbances namely echolalia. Eye contact and visual acuity remains normal and bilateral grasping and sucking are present. Epilepsy is controlled with three antiepileptic drugs. The family was referred for genetic counseling. [scielo.mec.pt]

It may more rarely present as the initial manifestation of X-ALD in adolescent (<7%) or adult (<5%) males. [orpha.net]

The present review is intended to describe the current knowledge of the pathophysiology of ALD and provide an update regarding newborn screening, diagnosis, monitoring, and treatment. [read.qxmd.com]

[…] oxidation of very long chain fatty acids occurs within the perosixome with its consequent accumulation in different tissues leading to mainly neurological and endocrinological manifestations; there is a phenotypic variability according to the age of presentation [scielo.org.co]

Discussion/Conclusion: Early diagnosis and treatment of this rare condition is very important as it can change the disease course. [scielo.mec.pt]

Early detection of a genetic mutation can lead to early diagnosis of further tumours via surveillance, early treatment and better prognosis... [read.qxmd.com]

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The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Early detection of a genetic mutation can lead to early diagnosis of further tumours via surveillance, early treatment and better prognosis... [read.qxmd.com]

In this case report, although questionable, given the lack of therapeutic options and the expected poor prognosis, a therapeutic trial was carried out being only interrupted one year later due to development of moderate thrombocytopenia. [scielo.mec.pt]

Etiology X-ALD is caused by mutations of ABCD1 (Xq28). More than 1,200 different mutations in the gene have been reported. No direct correlation has been made between the different mutations and phenotype. [orpha.net]

Summary Epidemiology X-ALD is the most common peroxisomal disorder with an estimated birth incidence is 1/20,000 (male and female). It has been reported throughout the world. [orpha.net]

The present review is intended to describe the current knowledge of the pathophysiology of ALD and provide an update regarding newborn screening, diagnosis, monitoring, and treatment. [read.qxmd.com]

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We aim, in this report, to highlight the importance of an earlier diagnosis of this rare disease, not only due to its severe morbidity and mortality, but also because early treatment of this disorder can prevent its neurological progression. [scielo.mec.pt]