“Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II”: Case Report

Keshri, Swasti; Goel, Anil Kumar; Johns, Juliet; Shah, Seema

doi:10.1007/s12291-021-01007-7

Cited by 1 publication

(2 citation statements)

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“…In the early onset electron transfer flavoprotein deficiency (ETFDH) or multiple acyl-CoA dehydrogenase deficiency disrupted electron transfer to the respiratory chain from fatty acid and amino acid oxidation can lead to liver dysfunction. 53 An infant presenting with respiratory distress in association with reduced conscious level, hypotonia, hypoglycaemia, lactic acidosis and hyperammonaemia succumbed to multi-organ failure. Individuals may be affected during pregnancy syndrome of haemolysis, elevated liver enzymes and low platelets (HELLP syndrome) due to FAOD in the foetus or in an undiagnosed, expectant mother.…”

Section: Disorders Of Fatty Acid Metabolismmentioning

confidence: 99%

“…The babies in general responded to carnitine supplementation along with low‐fat/high‐carbohydrate diet with frequent feedings and MCT supplementation. In the early onset electron transfer flavoprotein deficiency ( ETFDH ) or multiple acyl‐CoA dehydrogenase deficiency disrupted electron transfer to the respiratory chain from fatty acid and amino acid oxidation can lead to liver dysfunction 53 . An infant presenting with respiratory distress in association with reduced conscious level, hypotonia, hypoglycaemia, lactic acidosis and hyperammonaemia succumbed to multi‐organ failure.…”

Section: Disorders Of Fatty Acid Metabolismmentioning

confidence: 99%

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Genetic aetiologies of acute liver failure

Hegarty,

Thompson

2024

J of Inher Metab Disea

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Acute liver failure (ALF) is a rare, rapidly evolving, clinical syndrome with devastating consequences where definitive treatment is by emergency liver transplantation. Establishing a diagnosis can be challenging and, historically, the cause of ALF was unidentified in up to half of children. However, recent technological and clinical advances in genomic medicine have led to an increasing proportion being diagnosed with monogenic aetiologies of ALF. The conditions encountered include a diverse group of inherited metabolic disorders each with prognostic and treatment implications. Often these disorders are clinically indistinguishable and may even mimic disorders of immune regulation or red cell disorders. Rapid genomic sequencing for children with ALF is, therefore, a key component in the diagnostic work up today. This review focuses on the monogenic aetiologies of ALF.

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Section: Disorders Of Fatty Acid Metabolismmentioning

confidence: 99%

Section: Disorders Of Fatty Acid Metabolismmentioning

confidence: 99%