Fumarase Deficiency Associated With Noninflammatory Biliary Atresia

Vara, Roshni; Grammatikopoulos, Tassos; Gallagher, C.; Agalou, Stamatina; Zen, Yoh; Davenport, Mark; Hadžić, Nedim

doi:10.1097/mpg.0b013e31826f7526

Cited by 4 publications

(7 citation statements)

References 8 publications

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“…(g) Two brothers: hypotonia, respiratory insufficiency after birth, corpus callosum agenesis, ventriculomegaly, dangling choroid plexus, bilateral renal pyelectasis, ventriculoseptal defect, death at 22 days age, postmortem showed lissencephaly, severe metabolic acidosis, necrotizing enterocolitis, liver failure with coagulopathy, hyperbilirubinemia, and encephalopathy 32 ; non-inflammatory biliary atresia 38 ;…”

Section: Resultsmentioning

confidence: 99%

Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin

Chakravorty

Logan

Elson

et al. 2020

Sci Rep

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Pure sensory polyneuropathy of genetic origin is rare in childhood and hence important to document the clinical and genetic etiologies from single or multi-center studies. This study focuses on a retrospective chart-review of neurological examinations and genetic and electrodiagnostic data of confirmed sensory polyneuropathy in subjects at a tertiary-care Children’s Hospital from 2013 to 2019. Twenty subjects were identified and included. Neurological examination and electrodiagnostic testing showed gait-difficulties, absent tendon reflexes, decreased joint-position, positive Romberg’s test and large fiber sensory polyneuropathy on sensory nerve conduction studies in all patients associated with lower-extremity spasticity (6), cardiac abnormalities or cardiomyopathy (5), developmental delay (4), scoliosis (3), epilepsy (3) and hearing-difficulties (2). Confirmation of genetic diagnosis in correlation with clinical presentation was obtained in all cases (COX20 n = 2, HADHA n = 2, POLG n = 1, FXN n = 4, ATXN2 n = 3, ATM n = 3, GAN n = 2, SPG7 n = 1, ZFYVE26 n = 1, FH n = 1). Our single-center study shows genetic sensory polyneuropathies associated with progressive neurodegenerative disorders such as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia telangiectasia, spastic paraplegia, giant axonal neuropathy, and fumarate hydratase deficiency. We also present our cohort data in light of clinical features reported for each gene-specific disease subtype in the literature and highlight the importance of genetic testing in the relevant clinical context of electrophysiological findings of peripheral sensory polyneuropathy.

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Section: Resultsmentioning

confidence: 99%

Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin

Chakravorty

Logan

Elson

et al. 2020

Sci Rep

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“…A subset of FD patients also shows elevated excretion of other components of the citric acid cycle–related organic acids, most frequently succinate and 2-ketoglutarate. 4,5,7 -9,27,13,16,18,23,32,35 Succinic aciduria is probably due to inhibition of succinate dehydrogenase by the increased concentrations of fumarate. 5,8,9,13,18,23,27,32…”

Section: Discussionmentioning

confidence: 99%

“…Another characteristic of FD is axial hypotonia 5 -8,14,17 -27,30,32 -35 and hypertonia of the limbs. 2,4,16…”

Section: Discussionmentioning

confidence: 99%

“…Abnormal brain development is often described. Thus, neuroradiological imaging may reveal polymicrogyria 4,6,7,14,15,23 enlarged ventricles 2,4,5,12,13,15 -17,27,34 agenesis or hypoplasia of the corpus callosum 5,7,9,13,21,22,29 and white matter abnormalities such as hypomyelination, delayed myelination, and demyelination are frequently seen. 5,6,14,18,21,22,24,26 EEG frequently reveals diffuse slowing of background activity with spike waves or hypsarrhythmia 5,12,14,16,19 -21,25,27,31,34 as in our patient (Figure 2).…”

Section: Discussionmentioning

confidence: 99%

“…In some cases, prominent facial characteristics are found such as hypertelorism, depressed nasal bridge, micrognathia, polydactyly, tented upper lip, and frontal bossing 3,5,6,9,12,15,17,18,21 -23,29,32 (Table 2).…”

Section: Discussionmentioning

confidence: 99%

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Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature

et al. 2020

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Fumarase deficiency (FD) is a rare and severe autosomal disorder, caused by inactivity of the enzyme fumarase, due to biallelic mutations of the fumarase hydratase ( FH) gene. Several pathogenic mutations have been published. The article describes an infant with failure to thrive, microcephaly, axial hypotonia, and developmental retardation with increased excretion of fumarate, no activity of fumarase and a homozygous mutation of the FH gene, which was until recently only known as a variant of unknown significance. Carriers of pathogenic mutations in the FH gene are at risk for developing renal cell carcinoma and should therefore be screened. Both parents were healthy carriers of the mutation and had decreased levels of enzyme activity. In addition, the article presents an overview and analysis of all cases of FD reported thus far in the literature.

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Genetics in biliary atresia

Girard

Panasyuk

2019

Current Opinion in Gastroenterology

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Fumarase Deficiency Associated With Noninflammatory Biliary Atresia

Cited by 4 publications

References 8 publications

Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin

Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin

Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature

Genetics in biliary atresia

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