Multiple Endocrine Disorders Associated With Adrenomyeloneuropathy and a Novel Mutation of the ABCD1 Gene

Triantafyllou, Panagiota; Economou, Marina; Vlachaki, Euthymia; Aggelaki, Maria; Athanassiou-Mataxa, Miranta; Michelakaki, E.; Zafeiriou, Dimitrios I.

doi:10.1016/j.pediatrneurol.2014.01.027

Cited by 8 publications

(3 citation statements)

References 13 publications

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“…The impaired β-oxidation of VLCFAs and consequent accumulation in various tissues affects the function of adrenal gland, the nervous system and gonads. 14 , 30 The genetic examination in our study identified a novel ABCD1 gene mutation c.1202G > A in our patient, which resulted in the 401 amino acid changing from arginine to glutamine.…”

Section: Discussionmentioning

confidence: 62%

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A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review

Zhang

Chen

et al. 2021

Genes & Diseases

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Adrenomyeloneuropathy (AMN) is a kind of varied disease caused by ABCD1 gene mutation and characterized by very-long-chain fatty acids (VLCFA) accumulation. It is diagnosed by clinical features, high VLCFAs levels and ABCD1 gene mutation. AMN is rarely reported in Chinese population. In this study, we report the genetic and clinical features of a Chinese pure AMN patient. Meanwhile, we conducted a literature review of AMN cases to summarize the characteristics of AMN. We report a rare Chinese pure AMN case with slowly progressive weakness of the lower extremities, caused by a novel c.1202G > A mutation in ABCD1 gene. The literature review indicates that spastic paraplegia is the mainly clinical manifestation in patients with AMN. VLCFAs and ABCD1 gene test should be performed in patients with spastic paraplegia of the lower limbs to diagnose AMN.

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Section: Discussionmentioning

confidence: 62%

“…We reviewed 18 papers including 32 cases with AMN: the clinical features of these patients were summarized in Table 1 . 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 …”

Section: Literature Review Of Patients With Amn Reported In Chinamentioning

confidence: 99%

A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review

Zhang

Chen

et al. 2021

Genes & Diseases

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“…Of note, an association of other autoimmune phenomenon including vitiligo, ulcerative colitis, and multiple endocrine disorders have been previously reported in individuals with X-linked adrenoleukodystrophy. 5–7 Even more so, antiganglioside antibodies were shown to bind with enhanced affinity to gangliosides containing very long-chain fatty acids, which are theoretically differentially displayed on membranes, a fact that can lead to altered antigenicity. 8 Interestingly, other authors raised the hypothesis that accumulation of very long-chain fatty acids leads to myelin instability, which can trigger an inflammatory or immune-mediated process.…”

Section: Discussionmentioning

confidence: 99%

Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy

Jacob

Mandel

Shehadeh

2015

Child Neurology Open

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X-Linked adrenoleukodystrophy is the most common peroxisomal disorder with different phenotypes among patients carrying the same ABCD1 mutation. There were previously reported associations of X-linked adrenoleukodystrophy with autoimmune disorders. The authors describe Guillain Barré syndrome in a child with X-linked adrenoleukodystrophy. The available evidence does not permit conclusion concerning etiological linkage between the 2 diseases, but it warrants further study. A 2-year-old boy presented to the emergency department with 5 days of low-grade fever, progressive fatigue, and difficulty in breathing. Chest X-ray revealed right lower lobe consolidation. He was treated with antibiotics, bronchodilators, and systemic steroids. Two days later, he complained of a sudden pain in his arms and legs and worsening of weakness. He gradually lost consciousness and experienced respiratory failure necessitating mechanical ventilation. Brain computed tomography was unremarkable, and cerebrospinal fluid analysis revealed 10 white blood cells, with elevated protein and normal glucose levels. The next few days were characterized by altered state of consciousness, hemodynamic instability requiring vasoactive support, absence of tendon reflexes, and spontaneous limb movements. Extensive microbiologic and serologic studies were all negative. Motor and sensory nerve conduction studies of upper and lower limbs revealed multifocal slowing of nerve conduction, low amplitudes, elongated latencies, and absent F waves. Needle electromyography showed no spontaneous activity. In a working diagnosis of Guillain Barré syndrome, intravenous immunoglobulin course was given. When no significant neurological improvement was observed, another lumbar puncture was performed, unremarkable except for slightly elevated protein (56 mg/dL; normal range 0-40). Plasmapheresis was initiated with remarkable neurological improvement after the fifth course. During the following week, he was weaned off mechanical ventilation and medications and regained full neurological recovery after a few weeks. Four years later, at age of 6, he presented to the emergency department with 2 days of diarrhea, vomiting, and a fever of 39.5 C. Shortly after admission, he developed bloody diarrhea, gradually became stuporotic, hypotensive (75 mm Hg systolic pressure), and hypoglycemic (serum glucose 30mg/dL). Fecal cultures were positive for Shigella. He was treated with antibiotics, systemic steroids, and hemodynamic support. Over the next 3 days, he improved rapidly and was discharged home.Further investigation of the hypoglycemic episode revealed low morning serum cortisol level (43.3 nmol/L; normal range 138-690 nmol/L) and elevated adrenocorticotropin level (1230 pmol/L; normal range 1.1-10 pmol/L). These findings raised the diagnosis of Addison's disease, followed by the findings of abnormal profile of very long-chain fatty acids. This combination led to the diagnosis of X-linked adrenoleukodystrophy. Magnetic resonance imaging (MRI) of the brain was

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Oxidative Stress in Patients with X-Linked Adrenoleukodystrophy

et al. 2015

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X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disorder that is characterized by progressive demyelination of the white matter, adrenal insufficiency, and accumulation of very long-chain fatty acids in body fluid and tissues. This disorder is clinically heterogeneous with seven different phenotypes in male patients and five phenotypes in female carriers. An ultimate treatment for X-ALD is not available. Depending on the rate of the disease progression and the degree of an individual handicap, special needs and challenges vary greatly. The exact mechanisms underlying the pathophysiology of this multifactorial neurodegenerative disorder remains obscure. Previous studies has been related oxidative stress with the pathogenesis of several disease that affecting the central nervous system, such as neurodegenerative disease, epilepsy, multiple sclerosis, Alzheimer, and Parkinson diseases. In addition, oxidative damage has been observed in various in vivo and in vitro studies with inborn errors of metabolism, including X-ALD. In this context, this review is focused on oxidative stress in X-ALD, with emphasis on studies using biological samples from patients affected by this disease.

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Multiple Endocrine Disorders Associated With Adrenomyeloneuropathy and a Novel Mutation of the ABCD1 Gene

Cited by 8 publications

References 13 publications

A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review

A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review

Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy

Oxidative Stress in Patients with X-Linked Adrenoleukodystrophy

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