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
Dans Chinois
| WPRIM
| ID: wpr-247709
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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Sang
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Flavoprotéines de transfert d'électrons
/
Déficit multiple en acyl CoA déshydrogénase
/
Acide gras libre
/
Stéatose hépatique
/
Oxidoreductases acting on CH-NH group donors
/
Génétique
Type d'étude:
Étude de dépistage
Limites du sujet:
Adolescent
/
Adulte
/
Femelle
/
Humains
/
Bébé
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2016
Type:
Article
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