[Clinical features and gene mutations in a patient with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(2): 191-4, 2016 Apr.
Article
en Zh
| MEDLINE
| ID: mdl-27060313
OBJECTIVE: 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. METHODS: Potential mutations of the ETFDH gene were detected with polymerase chain reaction (PCR) and DNA sequencing. RESULTS: 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. CONCLUSION: 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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Flavoproteínas Transportadoras de Electrones
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Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa
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Hígado Graso
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Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH
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Proteínas Hierro-Azufre
Tipo de estudio:
Screening_studies
Límite:
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
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2016
Tipo del documento:
Article
Pais de publicación:
China