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[Hypoglycaemia without ketosis. A case report].

C Ferraz1, M E Reis, M M Lopes

  • 1Departamento de Pediatría, Hospital Pedro Hispano, Matosinhos, Portugal.

Revista De Neurologia
|September 16, 2005
PubMed
Summary
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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare genetic disorder. Early diagnosis is crucial, especially in children presenting with hypoketotic hypoglycemia and vomiting, to prevent severe complications.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare autosomal-recessive disorder.
  • Clinical presentations are variable, including hypoglycemia, cardiomyopathy, and neuromyopathy.

Observation:

  • A 3-year-old male presented with vomiting, hypotonia, and prostration post-respiratory infection.
  • Initial findings included hypoketotic hypoglycemia and elevated liver enzymes.

Findings:

  • Metabolic studies revealed a low lactate/pyruvate ratio, decreased serum carnitine, and dicarboxylic aciduria.
  • Molecular analysis identified homozygosity for the HADHA gene G1528C mutation.

Implications:

  • Consider fatty acid oxidation disorders in children with vomiting, prostration, and hypoketotic hypoglycemia.

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  • Awareness of LCHADD is vital for prompt diagnosis and management.
  • Measuring glucose and ketone bodies is critical in high-risk pediatric cases.