Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism

Isovaleric acidemia (IVA) is an autosomal recessive disease of the leucine metabolism due to a deficiency of isovaleryl-CoA dehydrogenase (IVD). We report the case of a six-month-old girl admitted with a seven-day history of fever, cough, stridor, vomiting, and respiratory distress. Second-degree co...

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Published inCurēus (Palo Alto, CA) Vol. 12; no. 2; p. e7150
Main Authors Khan, Adnan, Zahid, Bakhtyar, Khan, Sarbiland, Ahmad, Samreen A
Format Journal Article
LanguageEnglish
Published United States Cureus Inc 29.02.2020
Cureus
Subjects
Acidosis
Antibiotics
Case reports
Coma
Epidemiology/Public Health
Genetics
Marriage
Metabolic disorders
Mortality
Pediatrics
Proteins
Vomiting
Peshawar Pakistan
Pakistan
isovaleric acidemia
metabolic acidosis
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Summary:Isovaleric acidemia (IVA) is an autosomal recessive disease of the leucine metabolism due to a deficiency of isovaleryl-CoA dehydrogenase (IVD). We report the case of a six-month-old girl admitted with a seven-day history of fever, cough, stridor, vomiting, and respiratory distress. Second-degree consanguinity was documented between the parents. Urine organic acid analysis by gas chromatography-mass spectrometry showed marked excretion of 3-hydroxybutyric acid along with moderate excretion of 3- hydroxy-isovaleric acid. Isovaleric acidemia was diagnosed based on history, examination, and laboratory evaluation. The patient managed with fluid resuscitation, correction of her metabolic acidosis, antibiotics, and supportive care.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.7150