Hypercobalaminemia in children: clinical characteristics and ınherited metabolic diagnoses in a tertiary-center cohort

Disease spectrum and genetic profile of high-risk children with severe carnitine deficiency.

BACKGROUND Severe free carnitine deficiency (C0 ≤5 μmol/L) is frequently observed in pediatric patients suspected of primary carnitine deficiency (PCD), though confirmed diagnoses remain rare. This study aimed to analyze the disease spectrum and genetic profile of high-risk children with severe reduced carnitine levels...

Uncontrolled Levothyroxine Replacement Therapy in Primary Care: Frequency and Associated Biochemical and Hematological Findings

Hypothyroidism is one of the most common endocrine disorders worldwide. Despite well-established levothyroxine (LT4) replacement therapy, achieving biochemical euthyroidism remains challenging. This study aimed to determine the frequency of uncontrolled LT4 replacement therapy and its associated biochemical and hema...

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition

Plasma levels of essential amino acids, particularly branched‐chain amino acids (leucine, isoleucine, valine), histidine, and glutamine, were significantly reduced in sarcopenic patients, and leucine emerged as an independent predictor of sarcopenia.

Hematologic manifestations of sitosterolemia: Phenotypic spectrum and long-term outcomes in seven genetically confirmed patients.

BACKGROUND Sitosterolemia is a rare autosomal recessive lipid metabolism disorder caused by pathogenic variants in ABCG5 or ABCG8 genes. Although classically associated with xanthomas and premature atherosclerosis, some patients may predominantly present with hematologic manifestations, leading to significant diagnosti...

Endocrinología, Diabetes y Nutrición

Diagnostic significance of persistent hypophosphatasemia in pediatric patients: retrospective analysis and neonatal screening insights