Results 31 to 40 of about 18,288 (188)
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
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, 2010 X-linked adrenoleukodystrophy (ALD) is caused by mutations in the ABCD1 gene that encodes a protein of the peroxisomal membrane named ALDP. Mutations in ALDP result in elevated levels of very long chain fatty acids (VLCFA) and reduced VLCFA oxidation in peroxisomes. Three main phenotypes are seen in affected males. The childhood cerebral form manifests
Cappa M +4 more
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X-linked adult-onset adrenoleukodystrophy: Psychiatric and neurological manifestations
SAGE Open Medical Case Reports, 2017 Adult-onset adrenoleukodystrophy is a rare x-linked inborn error of metabolism occurring predominantly in males with onset in early 30s. Here, we report a 34-year-old male with first signs of disease in early 20s manifesting as a pure psychiatric ...
Daniah Shamim, Karen Alleyne
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Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy [PDF]
, 2013 This is a pre-copyedited, author-produced PDF of an article accepted for publication in Human Molecular Genetics following peer review. The version of record Human Molecular Genetics 22.16 (2013): 3296-3305 is available online at http://hmg ...
Boada, J. +13 more
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Uptake and metabolism of plasma-derived erucic acid by rat brain
Journal of Lipid Research, 2006 We examined the ability of erucic acid (22:1n-9) to cross the blood-brain barrier (BBB) by infusing [14–14C]22:1n-9 (170 μCi/kg, iv and icv) into awake, male rats. [1-14C]arachidonic acid (20:4n-6) [intravenous (i.v.)] was the positive control. After i.v.
Mikhail Y. Golovko, Eric J. Murphy
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A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder
Journal of General and Family Medicine, 2020 A 65‐year‐old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract.
Koji Obara +3 more
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X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
Revista Paulista de PediatriaObjective: To describe patients with different phenotypes of X-linked adrenoleukodystrophy: pre-symptomatic, cerebral demyelinating inflammatory adrenoleukodystrophy, adrenomyeloneuropathy and adrenal insufficiency only. Methods: Specific data related
Fernanda Luiza Schumacher Furlan +4 more
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Interactions of very long-chain saturated fatty acids with serum albumin
Journal of Lipid Research, 2002 The remarkable binding properties of serum albumin have been investigated extensively, but little is known about an important class of fatty acids, the very long-chain saturated fatty acids (VLCFA; >18 carbons). Although VLCFA are metabolized efficiently
Ji-Kyung Choi +5 more
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Different types of peroxisomes in human duodenal epithelium [PDF]
, 1991 Peroxisomes are ubiquitous organelles containing enzyme sequences for beta-oxidation of fatty acids, synthesis of bile acids, and ether phospholipids.
Roels, Frank +5 more
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Adrenoleukodystrophy in a Nigerian boy: A case report and review of literature
Nigerian Journal of Paediatrics, 2021 Adrenoleukodystrophy (ALD) is a hereditary, X-linked metabolic disorder with autosomal recessive traits. It arises from mutation in ABCD1 gene on chromosome Xq28.
Akowundu Pauline Karachi +3 more
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