An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency
-
Engin Melek
,
Fatma Derya Bulut
Abstract
Carnitine palmitoyltransferase II (CPT-II) deficiency is an autosomal recessively inherited disorder involving the β-oxidation of long-chain fatty acids, which leads to rhabdomyolysis and subsequent acute renal failure. The clinical phenotype varies from a severe infantile form to a milder muscle form. Here, we report a 9-year-old boy referred to our hospital for the investigation of hematuria with a 2-day history of dark urine and malaise. As no erythrocytes in the microscopic examination of the urine and hemoglobinuria were present, myoglobinuria due to rhabdomyolysis was the most probable cause of dark urine. After excluding the other causes of rhabdomyolysis, with the help of metabolic investigations, the patient was suspected to have CPT-II deficiency, the most common cause of metabolic rhabdomyolysis. Our aim in presenting this case is to emphasize considering rhabdomyolysis in the differential diagnosis of dark urine in order to prevent recurrent rhabdomyolysis and renal injury.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
- Frontmatter
- Review
- Definition of insulin resistance affects prevalence rate in pediatric patients: a systematic review and call for consensus
- Mini Review
- Bone health assessment of food allergic children on restrictive diets: a practical guide
- Original Articles
- Plasma concentrations of osteocalcin are associated with the timing of pubertal progress in boys
- The role of season and climate in the incidence of congenital hypothyroidism in Kerman province, Southeastern Iran
- Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up
- The association between obesity, hypertension and left ventricular mass in adolescents
- Bone mineral density and bone metabolic markers’ status in children with neurofibromatosis type 1
- The prevalence of dyslipidemia and associated factors in children and adolescents with type 1 diabetes
- High predictability of impaired glucose tolerance by combining cardiometabolic screening parameters in obese children
- Efficacy of long-term growth hormone therapy in short non-growth hormone-deficient children
- Prevalence, risk factors and consequences of overweight and obesity among schoolchildren: a cross-sectional study in Kashmir, India
- Association between screen time and snack consumption in children and adolescents: The CASPIAN-IV study
- Epidermal growth factor receptor (EGFR) involvement in successful growth hormone (GH) signaling in GH transduction defect
- Case Reports
- Turner syndrome and pituitary adenomas: a case report and review of literature
- An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency
- Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation
- Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia
