Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?

Background/aim: Cholesterol ester storage disease (CESD) is one of the rare causes that should be kept in mind in the etiology of cirrhosis. Recent studies detected that significantly reduced lysosomal acid lipase deficiency enzyme (LAL) in patients with cryptogenic cirrhosis (CC). Moreover, studies have evaluated that LAL activity is as effective as scoring systems in assessing the severity of cirrhosis

Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement

Objective: Due to the fact that mitochondrial diseases can involve different organ systems, neuromuscular involvement is frequently observed and has a substantial place in clinical practice. In this study, the clinical, radiological, electrophysiological and imaging features of the patients with mitochondrial disease with neuromuscular involvement were investigated. Method: The clinical, radiological and genetic features of 16 patients with genetically diagnosed mitochondrial disease followed in the Departments of Pediatric Neurology and Pediatric Metabolism and Nutrition in Dokuz Eylul University Faculty of Medicine were retrospectively evaluated. Results: The cases were between 3-17 years of age (mean: 8.8 +/- 4.2 years). 44% (n=7) of the cases were male. Clinical findings started at a mean age of 30 months (2-132 months). There was consanguineous marriage in 81% (n=13) of the cases. Leigh syndrome (LS), Charcot-Marie-Tooth disease (CMT) 2A, and CMT disease-axonal-type 2K were diagnosed in 5, 4, 2 cases, respectively. Alpers syndrome, combined oxidative phosphorylation deficiency-13, megalencephaly without cystic leukoencephalopathy, mt.9804G>A and m.11696G>A mutations which could not be phenotyped syndromicly were detected in one case each. SURF1 (n=2), MTATP6 (n=2) and PDSS2 (n=1) mutations were found in the patients with LS. NARS2, PNPT1, and RNASET2 mutations were found in the patients with Alpers syndrome, combined oxidative phosphorylation deficiency-13, cystic leukoencephalopathy without megalencephaly, respectively. Muscle weakness, developmental delay and skeletal deformity were the most common findings. The most common finding in brain magnetic resonance imaging was increased T2 signal in bilateral basal ganglia. Conclusion: The most common genetically diagnosed mitochondrial disease was LS, the most common mutation was MFN2, and the most common clinical finding was muscle weakness

Efficacy of Phenylalanine- and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature.

Introduction: Nitisinone used in alkaptonuria (AKU) can result in keratopathy due to strongly increased tyrosine levels. Methods: This study aimed to investigate nutritional status and changes in plasma tyrosine and phenylalanine and urinary homogentisic acid (u-HGA) levels in 8 adult AKU patients (mean age, 56.3 +/- 4.7 years) who were on tyrosine/phenylalanine-restricted diet together with 2 mg/day nitisinone. Results: The treatment period was 23.4 +/- 6.9 months. Daily dietary protein intake was restricted to 0.8-1.0 g/kg/day. Daily tyrosine intake was restricted to 260-450 mg/day for females and 330-550 mg/day for males. Tyrosine/phenylalanine-free amino acid supplements accounted for an average of 56.1% of daily protein intake. The following assessments were performed: anthropometric and plasma tyrosine level measurements every 2 months; ophthalmological examination every 6 months, and nutritional laboratory analyses and measurements of plasma amino acids and u-HGA once in a year. It was targeted to keep the plasma tyrosine level 700 mu mol/L was detected. The u-HGA level before and after the 1st year of treatment was 1,429.3 +/- 1,073.4 mmol/mol creatinine and 33.6 +/- 9.5 mmol/mol creatinine, respectively. None of the patients developed keratopathy or experienced weight loss and protein or micronutrient deficiency. Conclusion: AKU patients should receive tyrosine/phenylalanine-restricted diet for reducing plasma tyrosine level to the safe range. Tyrosine/phenylalanine-free amino acid supplements can be safely used to enhance dietary compliance. Keratopathy and nutrient deficiency should be frequently monitored. </p