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Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency

Hyung-Doo Park1, Suk Ran Kim, Chang-Seok Ki

  • 1Department of Laboratory Medicine & Genetics, Sungkyunkwan University School of Medicine, Samsung Medical Center, Gangnam-gu, Seoul, 135-710, Korea.

Annals of Clinical and Laboratory Science
|November 3, 2009
PubMed

Insights

Mitochondrial trifunctional protein deficiency, a genetic disorder, can cause severe heart failure in newborns. This case highlights a fatal presentation in a Korean infant with novel mutations in the HADHB gene.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mitochondrial trifunctional protein (MTP) is crucial for fatty acid oxidation, with alpha-subunits possessing LCEH/LCHAD activity and beta-subunits LCKT activity.
  • MTP deficiency is an autosomal recessive disorder presenting with a range of symptoms, from infantile cardiomyopathy to polyneuropathy.

Observation:

  • A Korean newborn presented with severe lactic acidosis, seizures, and heart failure.
  • Newborn screening and plasma acylcarnitine analysis revealed elevated 3-hydroxy species, suggesting LCHAD or MTP deficiency.

Findings:

  • Molecular analysis identified compound heterozygous novel mutations (c.358dupT and c.1364T>G) in the HADHB gene.
  • These mutations were inherited, indicating a genetic basis for the MTP deficiency.

Implications:

  • This case underscores the severe clinical manifestations of MTP deficiency, even with early intervention.
  • Understanding novel HADHB mutations is vital for diagnosing and potentially managing this rare metabolic disorder.

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