Long-term skeletal findings in Menkes disease

Amador, Eva; Domene, Ruth; Fuentes, Cristián; Carreño, Juan Carlos Solares; Enríquez, Goya

doi:10.1007/s00247-010-1551-8

Cited by 18 publications

(8 citation statements)

References 6 publications

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“…18 Radiographs often disclose abnormalities of bone formation in the skull (wormian bones), long bones (metaphyseal spurring) and ribs (anterior flaring and/or multiple fractures). 72 More recently identified problems include gastrointestinal polyps, pulmonary emphysema, arterial aneurysms, and lateral neck masses resulting from dilation of internal jugular veins. 73–76 Deficiency of the secreted cuproenzyme lysyl oxidase explains the myriad of connective tissue abnormalities.…”

Section: Atp7a-related Diseasesmentioning

confidence: 99%

ATP7A-related copper transport diseases—emerging concepts and future trends

2011

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This Review summarizes recent advances in understanding copper-transporting ATPase 1 (ATP7A), and examines the neurological phenotypes associated with dysfunction of this protein. Involvement of ATP7A in axonal outgrowth, synapse integrity and neuronal activation underscores the fundamental importance of copper metabolism to neurological function. Defects in ATP7A cause Menkes disease, an infantile-onset, lethal condition. Neonatal diagnosis and early treatment with copper injections enhance survival in patients with this disease, and can normalize clinical outcomes if mutant ATP7A molecules retain small amounts of residual activity. Gene replacement rescues a mouse model of Menkes disease, suggesting a potential therapeutic approach for patients with complete loss-of-function ATP7A mutations. Remarkably, a newly discovered ATP7A disorder—isolated distal motor neuropathy—has none of the characteristic clinical or biochemical abnormalities of Menkes disease or its milder allelic variant occipital horn syndrome (OHS), instead resembling Charcot–Marie–Tooth disease type 2. These findings indicate that ATP7A has a crucial but previously unappreciated role in motor neuron maintenance, and that the mechanism underlying ATP7A-related distal motor neuropathy is distinct from Menkes disease and OHS pathophysiology. Collectively, these insights refine our knowledge of the neurology of ATP7A-related copper transport diseases and pave the way for further progress in understanding ATP7A function.

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Section: Atp7a-related Diseasesmentioning

confidence: 99%

ATP7A-related copper transport diseases—emerging concepts and future trends

2011

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“…Microscopic examination of the hair will reveal the pili torti [ 1 ]. Menkes disease infants have pudgy cheeks, skeletal changes [ 85 ] including wormian bones, metaphyseal widening -particularly of the ribs and femora- and lateral spurs, progressive cerebral deterioration with seizures, and widespread arterial elongation and tortuosity [ 67, 69 ]. There can be metaphyseal fractures mimicking the classic metaphyseal lesion from child abuse.…”

Section: Copper Homeostasismentioning

confidence: 99%

Disorders of metal metabolism

Ferreira

Gahl

2017

Translational Science of Rare Diseases

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Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum. Of these, some are metals, and in particular, transition metals. The different electron shells of an atom carry different energy levels, with those closest to the nucleus being lowest in energy. The number of electrons in the outermost shell determines the reactivity of such an atom. The electron shells are divided in sub-shells, and in particular the third shell has s, p and d sub-shells. Transition metals are strictly defined as elements whose atom has an incomplete d sub-shell. This incomplete d sub-shell makes them prone to chemical reactions, particularly redox reactions. Transition metals of biologic importance include copper, iron, manganese, cobalt and molybdenum. Zinc is not a transition metal, since it has a complete d sub-shell. Selenium, on the other hand, is strictly speaking a nonmetal, although given its chemical properties between those of metals and nonmetals, it is sometimes considered a metalloid. In this review, we summarize the current knowledge on the inborn errors of metal and metalloid metabolism.

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“…Definitive treatment requires daily subcutaneous or intravascular copper supplementation. [10][11][12][13][14][15]…”

Section: Discussionmentioning

confidence: 99%

Opening Pandora’s Box: A Chest Radiograph in a 5-Month-Old With Bronchiolitis

Wacks

Schoppel²,

Sell

et al. 2016

Hospital Pediatrics

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A 5-month-old, otherwise healthy, former 35-week male infant, presented to our pediatric emergency department with the chief complaint of cough and "sucking in" at the chest. The patient was in his usual state of health until 1 day prior to presentation when he developed nasal congestion. Before coming into the hospital, the family noted decreased oral intake and only 3 wet diapers in the past 24 hours. No other past medical history was notable except intubation at time of delivery due to respiratory distress requiring surfactant administration. Past surgical history was significant for bilateral inguinal hernia repair and circumcision. He is on no medications currently and immunizations are up to date. He lives at home with his nonsmoking parents.In the emergency department, the patient's vitals were as follows: heart rate, 137; blood pressure, 94/51; temperature, 36.8; respiratory rate, 56; and pulse oximetry, 97% on room air. Physical examination revealed an infant in mild respiratory distress with tachypnea, subcostal retractions, clear nasal discharge, and coarse breath sounds throughout. The patient was treated with nasal suctioning, and the decision was made to send for chest radiograph.

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Long-term skeletal findings in Menkes disease

Cited by 18 publications

References 6 publications

ATP7A-related copper transport diseases—emerging concepts and future trends

ATP7A-related copper transport diseases—emerging concepts and future trends

Disorders of metal metabolism

Opening Pandora’s Box: A Chest Radiograph in a 5-Month-Old With Bronchiolitis

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