Antenatal nephromegaly and propionic acidemia: a case report

Bernheim, Ségolène; Deschênes, Georges; Schiff, Manuel; Cussenot, Isabelle; Niel, Olivier

doi:10.1186/s12882-017-0535-4

Cited by 7 publications

(5 citation statements)

References 11 publications

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“…A previous study has reported a previously healthy adolescent individual suffering from isolated dilated cardiomyopathy without history of metabolic decompensation also had reduced PCC enzyme activity and pathogenic variants in PCCB gene [108]. Recently, a male neonate born with nephromegaly and acute kidney injury with unknown cause was later found to have PA following a metabolic decompensation episode at the age of three months [109]. It remains unclear whether the congenital renal anomalies are related to this individual’s PA diagnosis.…”

Section: Reviewmentioning

confidence: 99%

Propionyl-CoA carboxylase – A review

Wongkittichote

Mew

Chapman

2017

Molecular Genetics and Metabolism

167

159

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Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB to form a hetero-dodecamer. Dysfunction of PCC leads to the inherited metabolic disorder propionic acidemia, which can result in an affected individual presenting with metabolic acidosis, hyperammonemia, lethargy, vomiting and sometimes coma and death if not treated. Individuals with propionic acidemia also have a number of long term complications resulting from the dysfunction of the PCC enzyme. Here we present an overview of the current knowledge about the structure and function of PCC. We review an updated list of human variants which are published and provide an overview of the disease.

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Section: Reviewmentioning

confidence: 99%

Propionyl-CoA carboxylase – A review

Wongkittichote

Mew

Chapman

2017

Molecular Genetics and Metabolism

167

159

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“…A pathogenic PCCB gene (mutation) is related to cardiomyopathy in clinical reports (Bernheim et al. 2017 ). The relationship between the PCCB expression level and cardiovascular defects remains unclear.…”

Section: Discussionmentioning

confidence: 99%

Sericin-mediated improvement of dysmorphic cardiac mitochondria from hypercholesterolaemia is associated with maintaining mitochondrial dynamics, energy production, and mitochondrial structure

Rujimongkon

Ampawong

Isarangkul

et al. 2022

Pharmaceutical Biology

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Context Sericin is a component protein in the silkworm cocoon [ Bombyx mori Linnaeus (Bombycidae)] that improves dysmorphic cardiac mitochondria under hypercholesterolemic conditions. This is the first study to explore cardiac mitochondrial proteins associated with sericin treatment. Objective To investigate the mechanism of action of sericin in cardiac mitochondria under hypercholesterolaemia. Materials and methods Hypercholesterolaemia was induced in Wistar rats by feeding them 6% cholesterol-containing chow for 6 weeks. The hypercholesterolemic rats were separated into 2 groups ( n = 6 for each): the sericin-treated (1,000 mg/kg daily) and nontreated groups. The treatment conditions were maintained for 4 weeks prior to cardiac mitochondria isolation. The mitochondrial structure was evaluated by immunolabeling electron microscopy, and differential mitochondrial protein expression was determined and quantitated by two-dimensional gel electrophoresis coupled with mass spectrometry. Results A 32.22 ± 2.9% increase in the percent striated area of cardiac muscle was observed in sericin-treated hypercholesterolemic rats compared to the nontreatment group (4.18 ± 1.11%). Alterations in mitochondrial proteins, including upregulation of optic atrophy 1 (OPA1) and reduction of NADH-ubiquinone oxidoreductase 75 kDa subunit (NDUFS1) expression, are correlated with a reduction in mitochondrial apoptosis under sericin treatment. Differential proteomic observation also revealed that sericin may improve mitochondrial energy production by upregulating acetyl-CoA acetyltransferase (ACAT1) and NADH dehydrogenase 1α subcomplex subunit 10 (NDUFA10) expression. Discussion and conclusions Sericin treatment could improve the dysmorphic mitochondrial structure, metabolism, and energy production of cardiac mitochondria under hypercholesterolaemia. These results suggest that sericin may be an alternative treatment molecule that is related to cardiac mitochondrial abnormalities.

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“…Congenital urinary abnormalities are often associated with the kidney anomalies, and there is a wide range of malformations resulting from disorders in the normal development process [9].…”

Section: Classificationmentioning

confidence: 99%

“…e. Unilateral asymmetric fusions. There is a single kidney mass with a crossed ectopic kidney, known as 'the sigmoid kidney', usually located in the pelvis [7][8][9][10].…”

Section: Classificationmentioning

confidence: 99%

See 1 more Smart Citation

Congenital Anomalies of Urinary Tract and Anomalies of Fetal Genitalia

Sandulescu¹,

Vicol²,

Șerban³

et al. 2018

Congenital Anomalies - From the Embryo to the Neonate

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Congenital anomalies of the kidney, urinary tract and genitalia anomalies are among the most frequent types of congenital malformations. Many can be diagnosed by means of ultrasound examination during pregnancy. Some will be discovered after birth. Kidney and urinary malformations represent 20% of all birth defects, appearing in 3-7 cases at 1000 live births. Environmental factors (maternal diabetes or intrauterine exposure to angiotensinconverting enzyme inhibitors) and genetic factors (inherited types of diseases) seem to be among causes that lead to the disturbance of normal nephrogenesis and generate anomalies of the reno-urinary tract. It is very important to diagnose and differentiate between the abnormalities incompatible with life and those that are asymptomatic in the newborn. The former requires interruption of pregnancy, whereas the latter could lead to saving the renal function if diagnosed antenatally. In many cases, the congenital anomalies of the urinary and genital tract may remain asymptomatic for a long time, even up until adulthood, and can be at times the only manifestation of a complex systemic disease. Some can manifest in more than one member in the family. This is the reason why the accurate genetic characterization is needed; it can help give not only the patient but also her family the appropriate genetic counseling, and also, in some cases, the management may prevent severe complications.

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Antenatal nephromegaly and propionic acidemia: a case report

Cited by 7 publications

References 11 publications

Propionyl-CoA carboxylase – A review

Propionyl-CoA carboxylase – A review

Sericin-mediated improvement of dysmorphic cardiac mitochondria from hypercholesterolaemia is associated with maintaining mitochondrial dynamics, energy production, and mitochondrial structure

Congenital Anomalies of Urinary Tract and Anomalies of Fetal Genitalia

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