Clinical features and gene mutations in a patient with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 191-194, 2016.
Article
in Zh
| WPRIM
| ID: wpr-247709
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical features and gene mutations in an adolescent patient affected with late-onset multiple aeyl-CoA dehydrogenase deficiency (MADD) with severe fatty liver.</p><p><b>METHODS</b>Potential mutations of the ETFDH gene were detected with polymerase chain reaction (PCR) and DNA sequencing.</p><p><b>RESULTS</b>The 13-year-and-10-month girl has presented with weakness without any other special manifestation. Laboratory tests demonstrated an elevation of myocardial enzyme levels, total cholesterol, lactic acid and abnormal serum free fatty acids. H magnetic resonance spectroscopy revealed severe fatty liver. An increase in multiple plasma acyl-carnitines was detected by gas chromatography/mass spectrometry and isobutyrylglycine in urine by screening with tandem mass spectrometry. Genetic analysis demonstrated 2 heterozygous missense mutations c.250G>A (p.Ala84Thr) and c.353G>T (p.Cys118Phe) in the ETFDH gene. The diagnosis of MADD was confirmed. The patient was given large dose of vitamin B2, which resulted in rapid clinical and biochemical improvement.</p><p><b>CONCLUSION</b>A common mutation c.250G>A and a novel mutation c.353G>T in the ETFDH gene were identified in the patient. The pathogenic role of c.353G>T (p.Cys118Phe) deserves further study. Early diagnosis of MADD and appropriate therapy is crucial for the prognosis.</p>
Full text:
1
Database:
WPRIM
Main subject:
Pedigree
/
Blood
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Molecular Sequence Data
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Base Sequence
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Electron-Transferring Flavoproteins
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Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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Fatty Acids, Nonesterified
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Fatty Liver
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Oxidoreductases Acting on CH-NH Group Donors
/
Genetics
Type of study:
Screening_studies
Limits:
Adolescent
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Adult
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Female
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Humans
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Infant
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Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Document type:
Article