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A Rare Case with Short Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD) with Symptom of Cardiac Involvement
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M Mohammadi *   , M Alijanpour , E . Khodabakhsh |
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Abstract: (14649 Views) |
BACKGROUND AND OBJECTIVE: Short-Chain L-3 Hydroxyacyl-CoA Dehydrgenase deficiency may be presented in years after birth and sometimes lead to patients mortality. According to importance of nonspecific symptoms of disease and early progression that due to patients life-threatening we decided to report clinical and biochemical manifestation of patient with SCHAD deficiency and with symptom of cardiac involvement.
CASE: A 15 year old child with respiratory distress and loss of consciousness was admitted to the PICU. Patients had a history of intermittent vomiting and early fatigue during normal activity from 2 years ago. The development had been normal until now. Lab data revealed severe metabolic acidosis and in echocardiography hypertrophic cardiomyopathy, due to previous dilated cardiomyopathy with EF: 25-30% and severe dysfunction of both ventricles were reported. The patient was intubated on the second day of admission due to bradycardia and deteriorating the level of consciousness and he died on the third day of admission due to cardiopulmonary arrest. Finally, according to the high levels of 3-Hydroxy Butyryl Carnitine or (C4-OH) metabolic disease (SCHAD) was diagnosed.
CONCLUSION: Symptoms of metabolic disease can be seen with dilatory in infant with normal development. Because of the low recognition of symptoms particularly cardiac involvement, delay in diagnosis can be life threatening.
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| Keywords: SCHAD, Metabolic disease, Hypoglycemia, Cardiomegaly. |
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Full-Text [PDF 266 kb]
(1839 Downloads)
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Type of Study: Research |
Subject:
Biochemical
Accepted: 2014/06/11 | Published: 2014/06/11
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