Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
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Acute fatty liver of pregnancy (AFLP) is a rare liver disease unique to pregnancy potentially fatal for both mother and child. Only a few cases of recurrence have been published. We report a new case. A 27-year-old primiparous patient presented a first episode of AFLP in 1991 at 37 week's gestation. Diagnosis was suspected because of vomiting, thrombocytopenia, and liver function tests abnormalities. It was confirmed by liver ultrasonography and abdominal computed tomography. Clinical and biological improvement was observed after caesarean delivery. Six years later, the woman began a second pregnancy. Liver function tests and complete blood count were regularly checked. At 30 weeks' gestation, recurrent AFLP occurred and caesarean section was performed. Again, diagnosis was confirmed by both ultrasonography and abdominal computed tomography. In 2006, the mother and the two girls, 15 and 8-year-old respectively, were in good health. The study of the HADHA gene, coding alpha subunit long chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) in the patient failed to find mutations, particularly the common mutation c.1528G>C (Glu474-Gln, p.E474Q). In conclusion, after an episode of AFLP, women should be clearly warned of the risk of recurrence and regularly monitored during the next pregnancy, even if the search of HADHA gene mutation is negative.
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PMID:[Recurrent acute fatty liver of pregnancy]. 1817 73

A combination of unexplained peripheral neuropathy, hypoparathyroidism, and the inability to cope with metabolic stress could point to a rare inborn error of metabolism, such as mitochondrial trifunctional protein (MTP) deficiency.Here, we describe a 20-year-old woman who was known since childhood with axonal motor sensory polyneuropathy of unknown origin. She presented with progressive dyspnoea, and increased muscle weakness, preceded by 6 days of fever, vomiting, and diarrhoea. Laboratory testing showed rhabdomyolysis, and hypocalcaemia with low parathyroid levels. The patient was intubated because of respiratory insufficiency and a viral and bacterial pneumonia was diagnosed. She was discharged after 16 days of admission. Metabolic screening, performed at the time of rhabdomyolysis, showed increased concentrations of long-chain 3-hydroxyacyl carnitine species, together with elevated urinary excretion of 3-hydroxy dicarboxylic acids. Decreased activity of long-chain 3-hydroxyacyl-CoA dehydrogenase and long-chain 3-ketoacyl-CoA thiolase in peripheral lymphocytes and fibroblasts confirmed a MTP deficiency. Sequence analysis of the HADHB gene showed two heterozygous variants: c.209+1G>C (splicing defect) and c.980T>C (p.Leu327Leu). When the acylcarnitine profile was repeated after the episode of rhabdomyolysis had resolved it showed no abnormalities.Our case illustrates a cluster of peripheral neuropathy, episodic rhabdomyolysis, and hypoparathyroidism in a patient with MTP deficiency caused by mutations in the HADHB gene. It stresses the importance of performing metabolic screening when patients are most symptomatic, as normal results can be found at times when no metabolic stress is present. Screening is relatively easy and timely diagnosis has important implications for treatment.
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PMID:Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency. 2868 93