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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings
L Van Maldergem1, D Tuerlinckx, R J Wanders
1Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium. vmald@skypro.be
Insights
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency can cause early-onset liver cirrhosis and severe brain damage in infants. These serious complications may be underestimated in affected children.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is a rare inherited metabolic disorder.
- It affects fatty acid oxidation, leading to energy production deficits.
- Early diagnosis and management are crucial for affected individuals.
Observation:
- The study details two infant siblings diagnosed with LCHAD deficiency.
- Clinical manifestations included liver enlargement, failure to thrive, and neurological impairment.
- Infectious stress, such as rotavirus gastroenteritis, triggered severe episodes.
Findings:
- Both patients presented with early-onset liver cirrhosis, a finding not commonly reported.
- The second child experienced hepatic failure and status epilepticus, progressing to fatal heart failure.
- Severe neurological disease, including coma and seizures, was observed.
Implications:
- Liver cirrhosis and brain damage may be significant, yet underestimated, complications of LCHAD deficiency.
- These severe outcomes can manifest early in infancy.
- Increased awareness and monitoring for these complications are warranted in LCHAD deficiency cases.
Unlabelled:
We present the clinical, pathological, biochemical, and molecular results on an infant girl with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and data on her deceased elder brother for whom this condition was retrospectively diagnosed. Clinical signs were liver enlargement and elevated liver enzymes, failure to thrive, and neurological disease (coma, seizures) triggered by an infectious stress. In the second child hepatic failure and status epilepticus developed during the onset of a rotavirus gastroenteritis. A barbituric coma was induced, but hypotonia and lack of eye pursuit persisted after suppression of antiepileptic drugs. She ultimately died of heart failure. Unlike previously reported cases, both of these patients had early-onset cirrhosis, and severe neurological disease was observed in the second child.
Conclusion:
Liver cirrhosis and brain damage may be underestimated in cases of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and may occur early in life.