Medicine · 2020
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Ding Meijuan, Liu Ruihua, Qiubo Li, Zhang Yanke, Kong Qingxia
Аннотация
RATIONALE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid, amino acid, and choline metabolism. The clinical manifestation of MADD is heterogeneous, from severe neonatal forms to mild late-onset forms.
PATIENT CONCERNS: Here, we report a patient who presented with severe hypoglycemia and exercise intolerance suggestive of MADD. Serum tandem mass spectrometry analysis indicated elevated levels of various acyl carnitines at 25 days of age. Exome sequencing of the proband revealed compound heterozygous mutations, c. 413T>G (p.Leu138Arg) and c.1667C > G (p.Pro556Arg), in the ETFDH gene as the probable causative mutations.
DIAGNOSES: Based on the patient's clinical presentation and test results, the patient was diagnosed with MADD.
INTERVENTIONS: A high-calorie and reduced-fat diet was given together with oral supplements of L-carnitine (150 mg/day).
OUTCOMES: He passed away at the age of 4 months because of severe respiratory distress accompanied by muscle weakness.
LESSONS: He passed away at the age of 4 months because of severe respiratory distress accompanied by muscle weakness. Clinicians should consider MADD in the differential diagnosis when patients present with muscle weakness and biochemical abnormalities. Gene testing plays a critical role in confirming the diagnosis of MADD and may not only prevent the need for invasive testing but also allow for timely initiation of treatment.
PATIENT CONCERNS: Here, we report a patient who presented with severe hypoglycemia and exercise intolerance suggestive of MADD. Serum tandem mass spectrometry analysis indicated elevated levels of various acyl carnitines at 25 days of age. Exome sequencing of the proband revealed compound heterozygous mutations, c. 413T>G (p.Leu138Arg) and c.1667C > G (p.Pro556Arg), in the ETFDH gene as the probable causative mutations.
DIAGNOSES: Based on the patient's clinical presentation and test results, the patient was diagnosed with MADD.
INTERVENTIONS: A high-calorie and reduced-fat diet was given together with oral supplements of L-carnitine (150 mg/day).
OUTCOMES: He passed away at the age of 4 months because of severe respiratory distress accompanied by muscle weakness.
LESSONS: He passed away at the age of 4 months because of severe respiratory distress accompanied by muscle weakness. Clinicians should consider MADD in the differential diagnosis when patients present with muscle weakness and biochemical abnormalities. Gene testing plays a critical role in confirming the diagnosis of MADD and may not only prevent the need for invasive testing but also allow for timely initiation of treatment.