Aceruloplasminemia in a Turkish Adolescent With a Novel Mutation of Ceruloplasmin Gene

Güneş, Adalet Meral; Evim, Melike Sezgin; Baytan, Birol; Iwata, Atsushi; Hida, Ayumi; Avcı, Remzi

doi:10.1097/mph.0000000000000053

Cited by 5 publications

(1 citation statement)

References 16 publications

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“…Ferrous (Fe2+) iron is converted into ferric (Fe3+) iron in the plasma by an enzyme called caeruloplasmin, which is a copper-containing enzyme secreted by the liver. Affected individuals suffering from acaeruloplasminaemia have high serumferritin and low serum iron levels [40,41]. To date, only 60 disease-causing mutations associated with acaeruloplasminaemia and Parkinsonism-related disorders have been reported in the CP gene (HGMD, 2018; http://www.hgmd.cf.ac.uk).…”

Section: Neurodegeneration With Iron Accumulation In the Brain (Nbia)mentioning

confidence: 99%

Genetic Disorders Associated with Metal Metabolism

Umair

Alfadhel

2019

Cells

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Genetic disorders associated with metal metabolism form a large group of disorders and mostly result from defects in the proteins/enzymes involved in nutrient metabolism and energy production. These defects can affect different metabolic pathways and cause mild to severe disorders related to metal metabolism. Some disorders have moderate to severe clinical consequences. In severe cases, these elements accumulate in different tissues and organs, particularly the brain. As they are toxic and interfere with normal biological functions, the severity of the disorder increases. However, the human body requires a very small amount of these elements, and a deficiency of or increase in these elements can cause different genetic disorders to occur. Some of the metals discussed in the present review are copper, iron, manganese, zinc, and selenium. These elements may play a key role in the pathology and physiology of the nervous system.

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Section: Neurodegeneration With Iron Accumulation In the Brain (Nbia)mentioning

confidence: 99%

Genetic Disorders Associated with Metal Metabolism

Umair

Alfadhel

2019

Cells

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A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of aceruloplasminemia patients

Wang

et al. 2021

Metab Brain Dis

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Background and Purpose: Aceruloplasminemia (ACP) is a rare disorder of iron overload resulting from ceruloplasmin (CP) variants. Because of its rarity and heterogeneity, the diagnosis of ACP is often missed or misdiagnosed. Here, we aim to present a clinical spectrum of ACP and raise more attention to the early diagnosis.Methods: Whole exome sequencing (WES) was performed in a Chinese female patient suspected with ACP and her clinical data were collected in detail. The PubMed databases was searched for published ACP patients within the last decade, and we present a systematic review of their clinical features with data extracted from these researches.Results: A novel pathogenic variant (c.2689delC) and a known pathogenic variant (c.606dupA) within ceruloplasmin gene were identi ed in our patient and con rmed the diagnosis of ACP. Then we reviewed 50 ACP patients including the case we reported here. A possible timeline of symptoms was discovered, anemia appears rst (29.7 years old on average), followed by diabetes (37.3 years old) and nally neurological symptoms (52.2 years old). The delay in diagnosis was signi cantly shortened in patients without neurological symptoms. Biochemical triad including anemia, low to undetectable serum ceruloplasmin, low serum iron and/or hyperferritinemia, showed better sensitivity in diagnosis than clinical triad including diabetes, neurological symptoms and retinal degeneration.Conclusions: Due to the variable symptom spectrum, patients with ACP often visit different departments, which can lead to misdiagnosis. Clinical attention needs to be paid to symptoms and tests that have a warning effect. Prompt diagnosis in the early stage of the disease can be bene cial.

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