Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

This review by a panel of pediatric metabolic disease specialists aimed to provide a practical and implementable guidance document to assist clinicians in best clinical practice in terms of recognition, diagnosis and management of patients with acid sphingomyelinase deficiency (ASMD). The participating experts consider the clinical suspicion of ASMD by the physician to be of utmost importance in the prevention of diagnostic delay and strongly suggest the use of a diagnostic algorithm including/starting with dried blood spots assay in the timely diagnosis of ASMD in patients presenting with hepatosplenomegaly and a need for increased awareness among physicians in this regard to consider ASMD in the differential diagnosis. In anticipation of the introduction of enzyme replacement therapy, raising awareness of the disease among physicians to prevent diagnostic delay and further investigation addressing natural history of ASMD across the disease spectrum, potential presenting characteristics with a high index of suspicion, as well as biomarkers and genotype-phenotype correlations suggestive of poor prognosis seem important in terms of implementation of best practice patterns

Continuous Venovenous Hemodiafiltration in Three Newborn Patients with Hyperammonemia

In newborns, hyperammonemia leads to encephalopathy which is usually characterized by vomiting, hypotonia, lethargy, seizures and coma. Continuous venovenous hemodiafiltration (CVVHDF) is a modality choice to treat acute decompensation in hyperammonemia. Here we report three newborn patients with hypotonia, convulsion and hyperammonaemia. In the first three days of life, their serum ammonia levels were 4609, 1023 and 1949 and #61549;g/ml. They were successfully treated with CVVHDF and serum ammonia levels subsequently decreased to 268, 164 and 65 and #61549;g/ml in the first 24 hours of treatment. The complications were mild hypothermia and anemia. [Cukurova Med J 2015; 40(Suppl 1): 161-166

THE FIRST REPORTED TWIN CASES WITH MUCOPOLYSACCHARIDOSES VI ON ENZYME REPLACEMENT TERAPY

WOS: 000309837800481

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications

Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor beta 1 and biotinidase deficiencies

WOS: 000463332100019PubMed ID: 30968642In this report, we described an infant with both partial biotinidase and IL-12R beta 1 deficiencies as these two entities are rare and unrelated inherited disorders. One-month-old girl was diagnosed as partial biotinidase deficiency with newborn screening programme. Mutation analysis revealed a compound heterozygous mutation BTD: c.1330G>C (p.Val444Leu) / c.196_197dupCATC (p.Leu69HisfsTer24). At the age of 6 months, a nodule on her left axilla with purulent discharge was noticed which was related to BCG vaccination. A mutational analysis revealed a homozygous c.783+1G>A mutation on IL-12R beta 1 gene. Interferon-gamma and anti-tuberculosis treatment were initiated together and the nodule with purulent discharge regressed dramatically. Here, we want to emphasize consideration of coexistence of two rare autosomal recessively inherited diseases in a patient due to the high rate of consanguinity in our country

A Case of Glutaric Aciduria Type I with a Novel Mutation

Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2. More than 200 mutations have been described for this gene. Most common mutation in the population is C1240T. Clinical symptoms included neurological regression complications such as loss of sucking and swallowing reflexes choreoathetosis, seizures, rigidity and opisthotonos. In treatment high-carbohydrate, low-protein diet and carnitine is given. We would like to report this interesting case in order to present a new mutation for glutaric aciduria type I. [Cukurova Med J 2013; 38(4.000): 809-812

Comparison of Calcitonin and Pamidronate Treatments in Children with Osteogenesis Imperfecta

Purpose: The main objective of this study was to compare the treatments of calcitonin and pamidronate by clinical, biochemical, and radiological findings in children with osteogenesis imperfecta and evaluate the efficiency of pamidronate treatment. Patients and methods: A total of 12 patients, aged 41&#177;38 (1-120) months were studied. Group 1 was consisted of six patients who had received intranasal calcitonin at a dosage of 4-6 U/kg three times a week before switching to pamidronate treatment. Group 2 was also consisted of six patients who had received only pamidronate infusion at a dosage of 0.5-2 mg/kg every two months. Results: Annual fracture rates decreased from 2.72 &#177; 0.80 to 0.40 &#177; 0.70 (p<0.05) in group 1, from 3.50 &#177; 0.54 to 0.40 &#177; 0.49 (p<0.001) in group 2, and from 4.50 &#177; 3.30 to 0.32 &#177; 0.41 (p<0.001) in total 12 patients. The Z-score of bone mineral density increased from -4.12 &#177; -0.60 to -3.80 &#177; -1.0 in calcitonin group (p>0.05), and from -3.08 &#177; -0.61 to -2.29 &#177; -0.56 in pamidronate group. The difference between the Z-scores of bone mineral density after calcitonin and pamidronate treatments was statistically significant (p<0.05). The Z-scores of pre (-3.44 &#177; -0.96) and post (-2.47 &#177; -0.60) pamidronate treatments of whole 12 patients were significantly different (p<0.001). Conclusion: Pamidronate was significantly more effective in reducing pain, annual fracture rate, and increasing bone mineral density and mobility than calcitonin without any severe adverse effects even in the neonatal period and severe forms of osteogenesis imperfecta. [Cukurova Med J 2013; 38(4.000): 667-674

Hypercarotenemia

WOS: 000437950000037

Gaucher disease type II or type III: a case report of an intermediate form with a new mutation

10th Annual World Symposium of the Lysosomal-Disease-Network (LDN) -- FEB 10-13, 2014 -- San Diego, CAWOS: 000330746000220Lysosomal Dis Networ