Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Isovaleric acidemia is an autosomal recessive metabolic disorder.
• It results from a deficiency in the enzyme isovaleryl-CoA dehydrogenase.
• This deficiency leads to the accumulation of toxic metabolites.

Observation:

• A 9-year-old girl presented with severe mental and growth retardation.
• She exhibited bilateral cataracts, multiple long bone fractures, congenital heart defects (vitium cordis), and craniofacial malformations.
• Recurrent infections were noted since early childhood.

Findings:

• The patient was diagnosed with isovaleric acidemia.
• The unusual constellation of symptoms, including skeletal and cardiac anomalies, is characteristic of severe, untreated cases.
• Metabolic investigations confirmed the diagnosis.

Implications:

• Early diagnosis and intervention are crucial for managing isovaleric acidemia.
• This case underscores the importance of considering metabolic disorders in children with complex, multi-systemic presentations.
• Further research into genotype-phenotype correlations may improve prognostic accuracy.