Symptoma

Carnitine Deficiency

Muscle Carnitine Deficiency

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]

  • 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]

  • Delayed Gastric Emptying

    Abstract An infant with delayed development and peripheral myopathy, nourished on a soy-based liquid diet deficient in carnitine, had gastrointestinal dysmotility manifested by postprandial vomiting, oral drooling, delayed gastric emptying and infrequent [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]

  • Asterixis

    We present the case of a 35-year-old woman who developed acute mental status changes, asterixis, and diffuse muscle weakness. Her ammonia level was elevated at 276 microg/dL. [ncbi.nlm.nih.gov]

  • Proximal Muscle Weakness

    Abstract The case is described of a 36 year-old man who presented with progressive proximal muscle weakness and weight loss. His serum creatine phosphokinase (CPK) levels were markedly elevated. The muscle biopsy showed lipid storage myopathy. [ncbi.nlm.nih.gov]

    muscle weakness, and developmental delays. 13 Asymptomatic cases have been reported in a family where a father and his two sons were each found to be homozygous for p.R471H mutation in the SLC22A5 gene and to have deficient carnitine uptake in fibroblasts [nature.com]

  • 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]

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]

In the thyroid gland, I-concentration is more progressive, also in the reservoir (from 1% after 30 minutes, to 5.8% after 48 hours, of the total injected dose.[18] The diagnostic workup of a suspected iodine deficiency includes signs and symptoms as well [en.wikipedia.org]

Workup of such patients includes measuring plasma amino acids and looking for succinylacetone on urine organic acid analysis. [genico.ch]

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 prognosis of PCD patients is good after early treatment. [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]

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]

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]

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]

Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med. 1999 Nov-Dec;1(7):332-9. [ghr.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]

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]

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]