Identification of a Novel Mutation in the <i>ATP7A</i> Gene in a Korean Patient with Menkes Disease

Kim, Yong Hyuk; Lee, Ran; Yoo, Han Wook; Yum, Mi‐Sun; Bae, Sun Hwan; Chung, So Chung; Park, Yong Mean; Son, Jae Sung

doi:10.3346/jkms.2011.26.7.951

Cited by 8 publications

(5 citation statements)

References 16 publications

(22 reference statements)

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“…14,15 Menkes syndrome/disease Background Menkes syndrome, also known as kinky hair disease, is an X-linked recessive neurodegenerative disorder caused by missense mutations in the ATP7 A gene (copper transport gene on chromosome Xq21.1), which causes impaired intestinal copper absorption, 16 reduced activity of copperdependent enzymes, 17,18 progressive hypotonia, seizures, and failure to thrive. 19 Skin and hair abnormalities (including hypopigmentation of hair, twisted hairs or pili torti, and pale and lax skin) result from decreased keratin fiber strength, tyrosinase activity, and melanin synthesis. 20 Treatment includes infusions with copper salts.…”

Section: Ocular Manifestationsmentioning

confidence: 99%

Pigmentary disorders of the eyes and skin

Que¹,

Weston²,

Suchecki³

et al. 2015

Clinics in Dermatology

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Section: Ocular Manifestationsmentioning

confidence: 99%

Pigmentary disorders of the eyes and skin

Que¹,

Weston²,

Suchecki³

et al. 2015

Clinics in Dermatology

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“…IS have been commonly reported in patients presenting with Menkes disease (Table ). Bahi‐Buisson et al .…”

Section: Metabolic Errors In Organic Moleculesmentioning

confidence: 99%

Metabolic etiologies in West syndrome

2018

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SummaryWest syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the patients have structural, metabolic, genetic, or infectious etiologies and, in the rest, the etiology is unknown. Here we review the contribution of etiologies due to various metabolic disorders in the pathology of WS. These may include metabolic errors in organic molecules involved in amino acid and glucose metabolism, fatty acid oxidation, metal metabolism, pyridoxine deficiency or dependency, or acidurias in organelles such as mitochondria and lysosomes. We discuss the biochemical, clinical, and EEG features of these disorders as well as the evidence of how they may be implicated in the pathogenesis and treatment of WS. The early recognition of these etiologies in some cases may permit early interventions that may improve the course of the disease.

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“…Interictal EEG shows a complete disappearance of background activity and multifocal high-amplitude and polymorphic activity with irregular slow waves (modified hypsarrhythmia). 39 In the late-onset stage, EEG is characterized by multifocal high-amplitude and polymorphic activity mixed with irregular slow waves.…”

Section: Eeg Findingsmentioning

confidence: 99%

“…Interictal EEG shows a complete disappearance of background activity and multifocal high-amplitude and polymorphic activity with irregular slow waves (modified hypsarrhythmia). 39…”

Section: Epilepsy In Menkes Diseasementioning

confidence: 99%

Epilepsy in Children With Menkes Disease

2014

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Menkes disease is a lethal multisystemic disorder of copper metabolism characterized by connective tissue abnormalities, progressive neurodegeneration and peculiar "kinky hair." Epilepsy is one of the main clinical features of this disease but it has been described in detail by only a few authors. Most patients develop seizures from 2 to 3 months of age, accompanied by a neurodevelopmental regression. The history of epilepsy is usually characterized by 3 stages: an early stage with focal clonic seizures and status epilepticus, an intermediate stage with infantile spasms, and a late stage with multifocal, myoclonic, and tonic seizures. At the onset, epilepsy can be controlled with anticonvulsant therapy, whereas with the progression of disease, it becomes extremely resistant to all antiepileptic drugs. In this article, we analyze clinical and electroencephalographic (EEG) characteristics of epilepsy in patients with this syndrome.

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Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease

Cited by 8 publications

References 16 publications

Pigmentary disorders of the eyes and skin

Pigmentary disorders of the eyes and skin

Metabolic etiologies in West syndrome

Epilepsy in Children With Menkes Disease

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