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Carnitine Deficiency

Muscle Carnitine Deficiency


Presentation

  • The present case illustrates the need for evaluation of carnitine status in fetuses and neonates presenting with hydrops associated with cardiac failure.[ncbi.nlm.nih.gov]
  • DISCUSSION: This case was presented to emphasize that carnitine deficiency can present with respiratory tract symptoms like wheezing and recurrent respiratory tract infections.[ncbi.nlm.nih.gov]
  • Homozygous patients with R254X were late-onset cases who presented with dilated cardiomyopathy and muscle weakness after 1 year of age.[ncbi.nlm.nih.gov]
  • The differential diagnosis of this case is discussed, and the up to date general data concerning carnitine deficiency are presented.[ncbi.nlm.nih.gov]
  • Abstract Celiac disease (CD) is an immune-mediated enteropathy in genetically susceptible persons and the disease can present with manifestations in the intestine and in organs outside the gut.[ncbi.nlm.nih.gov]
Turkish
  • We report a Turkish case with a novel SLC22A5 gene mutation presented with a pure cardiac phenotype. During the 14-year follow-up study, cardiac functions were remained within a normal range with oral L-carnitine supplementation.[ncbi.nlm.nih.gov]
  • Abstract A family of Turkish origin with primary systemic carnitine deficiency in the father and his two sons is described.[ncbi.nlm.nih.gov]
Steatorrhea
  • A male infant who had been born at 24 weeks' gestation with birth weight 799 g, was fed with an MCT formula containing 76.8% of all kinds of lipids, because of his steatorrhea after the 30th day.[ncbi.nlm.nih.gov]
Bilateral Leg Weakness
  • Abstract We describe a case of a 35-year-old woman who presented with bilateral leg weakness and encephalopathy while on long-term valproate therapy. She was diagnosed with valproate-induced encephalopathy due to carnitine deficiency.[ncbi.nlm.nih.gov]

Workup

  • The question remains of whether the male predominance is due to sex-related differences in exercise activities, an X-chromosomal modifier gene, or hormonal factors such as estrogen that seem to be a regulator of CPT. 17, 18 Diagnostic workup of exercise-induced[jamanetwork.com]
Microcytic Anemia
  • RESULTS: She had hypochromic microcytic anemia and the serum CPK level was elevated. Cardiothoracic index was increased (0.62).[ncbi.nlm.nih.gov]

Treatment

  • Carnitine treatment of inborn errors of metabolism is a safe and integral part of the treatment regime for these disorders.[ncbi.nlm.nih.gov]
  • The results of genetic diagnosis can guide the assisted reproductive treatment. The prognosis of PCD patients is good after early treatment.[ncbi.nlm.nih.gov]
  • Plasma free L-carnitine levels and RBC deformability before the treatment were found to be lower whereas lipid peroxidation and intracellular calcium concentration in RBC were higher compared to those of the control subjects before the L-carnitine treatment[ncbi.nlm.nih.gov]
  • Rhabdomyolysis did not recur after treatment with oral L-carnitine was introduced.[ncbi.nlm.nih.gov]
  • METHODS: Children with cancer or Langerhans cell histiocytosis who were receiving treatment or had completed therapy were eligible.[ncbi.nlm.nih.gov]

Prognosis

  • The prognosis of PCD patients is good after early treatment.[ncbi.nlm.nih.gov]
  • Treatment is very easy and lifesaving once the correct diagnosis is made, and the prognosis is excellent with lifelong carnitine supplementation. Copyright (c) 2007 S. Karger AG, Basel.[ncbi.nlm.nih.gov]
  • Prognosis The prognosis is extremely good as long as oral carnitine supplementation is maintained. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis The prognosis is excellent in diagnosed patients who avoid fasting and who are managed appropriately during an intercurrent illness/ metabolic crisis. The documents contained in this web site are presented for information purposes only.[orpha.net]

Etiology

  • Abstract Dilated cardiomyopathy is characterized by a dilated and poorly functioning left ventricle and can result from several different etiologies including ischemic, infectious, metabolic, toxins, autoimmune processes or nutritional deficiencies.[ncbi.nlm.nih.gov]
  • After we investigated the carnitine status in other members of the family, the brother of this patient, who had died of metabolic acidosis and hyperammonemia of unknown etiology in the neonatal period, was also revealed to have carnitine deficiency.[ncbi.nlm.nih.gov]
  • Age-associated carnitine deficiency from a variety of etiologies, including organic cation transporter (OCTN2) mutation and carnitine palmitoyltransferase II (CPT) deficiency, may potentially explain the relationship between carnitine-associated mitochondrial[ncbi.nlm.nih.gov]
  • Although PCD usually presents with hypoketotic hypoglycemia in infants, it also has to be suspected in the etiology of dilated cardiomyopathy.[ncbi.nlm.nih.gov]
  • In all 21 subjects with several different etiologies for the Fanconi syndrome, the mean fractional excretion of free carnitine (33%) as well as acyl carnitine (26%) greatly exceeded normal values (3 and 5%, respectively).[jci.org]

Epidemiology

  • To compare symptom outcomes before and after supplementation, patients completed validated measures of fatigue (Brief Fatigue Inventory [BFI]), depressed mood (Center for Epidemiologic Studies Depression Scale [CES-D]), quality of sleep (Epworth Sleeplessness[ncbi.nlm.nih.gov]
  • Summary Epidemiology The exact prevalence is unknown and varies depending on ethnicity. The estimated prevalence is 1/20,000 - 1/70,000 newborns in Europe and the USA while the estimated incidence in Japan is 1/40,000 births.[orpha.net]
  • Summary Epidemiology The estimated birth prevalence of MCADD is thought to range from 1/4,900 to 1/27,000 in Caucasian populations and is highest in individuals of Northern European descent. The worldwide birth prevalence is 1/14,600.[orpha.net]
  • Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med. 1999 Nov-Dec;1(7):332-9.[ghr.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • These findings suggest significant differences in the pathophysiology of acute encephalopathy in CD and RS, although the clinical and laboratory findings during an episode of acute encephalopathy in the former are usually very similar to those in the[ncbi.nlm.nih.gov]
  • The pathophysiology of EED remains poorly understood. METHODS: We measured serum metabolites using liquid chromatography-tandem mass spectrometry in 400 children, aged 12-59months, from rural Malawi.[ncbi.nlm.nih.gov]
  • The purpose of this study was to investigate and describe the association and pathophysiology of exposure to antibiotics containing pivalic acid and severe neurological and cardiac complications in six identified subjects suffering from PCD.[ncbi.nlm.nih.gov]
  • In the absence of such recommendations, a rational approach must be based on an understanding of the normal physiology of fasting in children of different ages and the pathophysiology associated with the child's particular disorder.[doi.org]
  • Carnitine transport: pathophysiology and metabolism of known molecular defects. J Inherit Metab Dis. 2003;26(2-3):147-69. Review. Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N.[ghr.nlm.nih.gov]

Prevention

  • We propose the use of L-carnitine therapy to prevent secondary carnitine deficiency in patients with CPS-I deficiency as well as ornithine transcarbamylase (OTC) deficiency.[ncbi.nlm.nih.gov]
  • The role of L-carnitine in preventing the accumulation of acyl-CoA compounds in inborn errors of organic acid metabolism is further emphasized by this patient.[ncbi.nlm.nih.gov]
  • These results suggest that L-carnitine can be used as a supplement in beta-thalassemic patients, to prevent RBC deterioration.[ncbi.nlm.nih.gov]
  • Development of therapeutic agents capable of prevention or reversal of carnitine deficiency in older adults may minimize the occurrence of frailty in geriatric populations. 2010 Elsevier Ireland Ltd. All rights reserved.[ncbi.nlm.nih.gov]

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