The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review

Shafieipour, Negin; Khamirani, Hossein Jafari; Kamal, Neda; Tabei, Seyed Mohammad Bagher; Dianatpour, Mehdi; Dastgheib, Seyed Alireza

doi:10.1016/j.ejmg.2023.104707

Cited by 2 publications

(1 citation statement)

References 22 publications

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“…12 Acetyl-CoA carboxylase 2, primarily expressed in the heart and skeletal muscles, is coupled to the mitochondrial outer membrane, and muscle weakness has been reported in patients with acetyl-CoA carboxylase deficiency. 13 Furthermore, an in vivo study demonstrated that Mg 2+ -deficient rats exhibited various ultrastructural changes in skeletal muscle tissue, including swelling mitochondria and disorganization of the sarcoplasmic reticulum network. 14 In summary, multiple mechanisms may be involved in the reduction of muscle mass.…”

Section: Discussionmentioning

confidence: 99%

Loss of Muscle Mass in Delayed Diagnosis of Renal Cysts and Diabetes Syndrome: A Case Report

Li,

Cao,

et al. 2023

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Renal cysts and diabetes syndrome (RCAD) is a rare disease caused by abnormalities in the HNF1B gene, which often leads to dysfunction in the renal, genital tracts, and pancreas. In this report, we present a rare case of a 27-year-old female with muscle mass loss who experienced a delayed diagnosis of RCAD. The patient had been misdiagnosed as "type 1 diabetes" for a long period. Her main clinical manifestations included muscle loss, renal magnesium loss, and an incomplete longitudinal uterus. Ultimately, the diagnosis of RCAD syndrome was confirmed through genetic testing. Reduction of muscle mass, although rarely reported, can progress to sarcopenia. Therefore, early intervention should be strongly emphasized. Furthermore, in future research, it is crucial to explore the mechanisms and relationships underlying these patients and their unusual manifestations.

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Section: Discussionmentioning

confidence: 99%

Loss of Muscle Mass in Delayed Diagnosis of Renal Cysts and Diabetes Syndrome: A Case Report

Li,

Cao,

et al. 2023

DMSO

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Disorders of fatty acid homeostasis

Vaz,

Ferdinandusse,

Salomons

et al. 2024

J of Inher Metab Disea

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Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources (“essential FA”). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of double bonds, the 2‐ and ω‐hydroxylation and chain elongation, thereby generating a cellular FA pool which can be used for the synthesis of more complex lipids. The biological properties of complex lipids are very much determined by their molecular composition in terms of the FA incorporated into these lipid species. This immediately explains the existence of a range of genetic diseases in man, often with severe clinical consequences caused by variants in one of the many genes coding for enzymes responsible for these FA modifications. It is the purpose of this review to describe the current state of knowledge about FA homeostasis and the genetic diseases involved. This includes the disorders of FA activation, desaturation, 2‐ and ω‐hydroxylation, and chain elongation, but also the disorders of FA breakdown, including disorders of peroxisomal and mitochondrial α‐ and β‐oxidation.

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The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review

Cited by 2 publications

References 22 publications

Loss of Muscle Mass in Delayed Diagnosis of Renal Cysts and Diabetes Syndrome: A Case Report

Loss of Muscle Mass in Delayed Diagnosis of Renal Cysts and Diabetes Syndrome: A Case Report

Disorders of fatty acid homeostasis

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