Muscle carnitine deficiency presenting as familial fatal cardiomyopathy.
نویسندگان
چکیده
منابع مشابه
Primary Carnitine Deficiency and Cardiomyopathy
Carnitine is essential for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent β-oxidation. A lack of carnitine results in impaired energy production from long-chain fatty acids, especially during periods of fasting or stress. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of mitochondrial β-oxidation resulting from defective carnitine...
متن کاملPrimary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy.
Carnitine deficiency syndrome is a rare and potentially fatal but treatable metabolic disorder. I present a 6-year-old girl with primary systemic carnitine deficiency (SCD) proved by very low plasma carnitine level. Her major clinical features included neonatal metabolic acidosis, epilepsy, recurrent infections, acute encephalopathy, and dilated cardiomyopathy with heart failure before 4 years ...
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Fatal familial surfactant protein B deficiency EDrroR,-In 1993 a sibship of three infants who died of hyaline membrane disease had had an absence of surfactant protein B (SP-B) and its mRNA in lung tissue.' The gene coding for SP-B has been located and a frameshift mutation in this gene has been identified in the reported sibship and in two other families .2 A further six cases of SP-B deficien...
متن کاملCombined therapy with PPARalpha agonist and L-carnitine rescues lipotoxic cardiomyopathy due to systemic carnitine deficiency.
OBJECTIVE Peroxisome proliferator-activated receptors (PPAR) are ligand-activated transcription factors that belong to the nuclear hormone receptor superfamily and are key regulators of fatty acid oxidation (FAO) in the heart. Systemic carnitine deficiency (SCD) causes disorders of FAO and induces hypertrophic cardiomyopathy with lipid accumulation. We hypothesized that activation of PPARalpha ...
متن کاملPeripartum Cardiomyopathy Presenting as Bradycardia
Peripartum cardiomyopathy (PPCM) is a disease that typically affects young otherwise healthy women. As PPCM is associated with significant mortality, timely diagnosis is necessary to ensure appropriate care. To our knowledge, this represents the first reported case of PPCM presenting as symptomatic bradycardia. We describe the patient's clinical presentation and relevant findings and review the...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1987
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.62.11.1170