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Mevalonic acidemia: first case of Japan.
N Okamoto1, M Nakayama, C Narahara
1Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 590-02, Japan.
The Japanese Journal of Human Genetics
|December 31, 2002
Summary
Mevalonic acidemia, a rare metabolic disorder, was identified in Japan
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Mevalonic acidemia results from mevalonate kinase deficiency, impacting cholesterol and nonsterol isoprenoid biosynthesis.
- This deficiency disrupts essential metabolic pathways.
Observation:
- The first reported case in Japan presented with intrauterine growth retardation and postnatal growth failure.
- Clinical manifestations included intractable diarrhea, liver dysfunction, and distinctive dysmorphic features.
- Dysmorphic features included a triangular face, prominent forehead, hypertelorism, low-set ears, and micrognathia.
Findings:
- Gas chromatography-mass spectrometry (GC/MS) confirmed elevated mevalonic acid levels.
- The infant experienced severe complications, leading to death at three months of age.
Implications:
- This case highlights the severe clinical spectrum of mevalonic acidemia, even in a new geographic region.
- Early diagnosis and understanding of this rare metabolic disorder are crucial for potential interventions.
- Further research into mevalonate kinase deficiency is warranted.
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