70 research outputs found
Case Report A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate
In treatment of metabolic imbalances caused by maple syrup urine disease (MSUD), peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be used in addition to basic dietary modifications. Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate (NaPB) in urea-cycle disorder cases has been associated with a reduction in branched-chain amino acid (BCAA) concentrations when the patients are on adequate dietary protein intake. Moreover, NaPB in treatment of MSUD patients is also associated with reduction of BCAA levels in a limited number of cases. However, there are not enough studies in the literature about application and efficacy of this treatment. Our case report sets an example of an alternative treatment's efficacy when extracorporeal procedures are not available due to technical difficulties during attack period of the disease
Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey
Aim:The aim of this study was to investigate the long-term outcome of hereditary tyrosinemia Type I (HTI) patients treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) to increase knowledge about the clinical outcome in these patients. We want to mention that the patients with HTI have heterogeneous clinic. Early diagnosis and early treatment important to prevent the complications.Materials and Methods:Aretrospective study was carried out with twenty nine patients with HTI and who had been followed up by Ege University Faculty of Medicine, Department of Pediatric Metabolic Diseases and Nutrition Unit between December 1996 and September 2017.Results:Eight patients were acute form, thirteen were subacute and eight patients were chronic form. Mean age onset of clinical symptoms was 3.7±1.6, 9±1.6 and 41±27 months in acute, subacute and chronic HTI patients, respectively. The mean interval from the first symptom the diagnosis was 12.2 months. Mean of follow-up was 82.2 months (minimum: 1 month-maximum: 203 months). Five patients of HTI diagnosed with hepatocellular carcinoma and neurogenic crises were detected in four patients.Conclusion:NTBC treatment is effective and improves the prognosis of HTI. But early diagnosis and treatment leads to much better outcome. Adherence to the diet and treatment and follow-up schedule of the patients are vital
Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine
Aim:During the coronavirus disease-2019 (COVID-19) pandemic, visiting the hospital and getting regular infusions can be difficult for patients with chronic illnesses. Telemedicine may offer a good option for the management of chronic diseases such as lysosomal storage diseases (LSD).Materials and Methods:LSD patients at the Unit of Metabolic Diseases of Ege University were contacted by phone between April, 2020 and March, 2021 during the COVID-19 pandemic. Telemedicine appointments were performed at intervals every month or three months, depending on the patients’ compliance with their treatment.Results:Ninety-two LSD patients [Mucopolysaccharidosis (MPS) I, MPS II, MPS IVA, MPS VI, MPS VII, Gaucher, Fabry, and Pompe] were included in this study. The total skipped treatment rate within one year was 17.1%. Most of the months of interruption were consonant with the time of social isolation. The treatment interruption in patients under 18 years was lower than in patients over 18 years. A positive correlation was detected between the age of patients and the interruption of treatment.Conclusion:The curfew periods might be one of the causes of missed treatment sessions. Telemedicine is a good method to improve the continuity of treatment. This study showed that the number of interrupted enzyme replacement treatments could be decreased via ongoing telemedicine appointments
Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey
Aim:Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosomal storage disease due to a deficiency of the iduronate-2-sulfatase (IDS) enzyme, which is one of the degradative enzymes of mucopolysaccharides. The purpose of this study is to present the clinical, biochemical and molecular characteristics of fifteen patients with MPS II in western Turkey.Materials and Methods:A retrospective study was carried out on fifteen patients with MPS II who were followed up by Ege University Faculty of Medicine, Unit of Pediatric Metabolic Diseases and Nutrition between October 2004 and September 2017.Results:The age range of the patients enrolled in the study was between 11 months and 318 months at the time of diagnosis. The most common symptom was coarse face. On physical examination, all of the patients presented with coarse face, macrocephaly and organomegaly. Except for one patient, all other were severe phenotype. IDS activity was significantly decreased in all patients in whom enzyme analysis was performed. In this study, one novel mutation was described.Conclusion:This is the first study on the clinical and molecular characterization of Turkish MPS II patients. The majority of the patients had neurologic involvement with different degrees of severity. The molecular analysis revealed one novel mutation
Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone
Hereditary tyrosinemia Type I (HTI) is an autosomal recessive disorder due to a deficiency of the enzyme fumarylacetoacetate hydrolase. The liver is the primary organ that is affected and comorbidities with renal and neurologic systems and hepatocellular carcinoma can be seen as a long-term complication. An effective treatment has been available with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC) since 1992. Neurogenic crises do not take place in HTI patients who are treated with NTBC. Here, we report on a seven-year-old boy who underwent a severe neurological crisis including anorexia, vomiting, weakness, hyponatremia, paresthesia and paralysis of the extremities, seizure and arterial hypertension after an interruption of NTBC treatment. With the re-introduction of NTBC, the patient gradually reacquired normal neurological functions, normal blood pressure and recovered completely
Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb.
Introduction: Glycogen storage disorder (GSD) IXb is characterized by liver and muscle involvement. We present a GSD IXb patient with an incidental union of nephrotic syndrome.
Case Report: A 4 year-old-patient was diagnosed with GSD IXb at 13 months of age with mildly elevated transaminases and hepatomegaly. During the follow-up period, there was no hypoglycemia. Development and growth were normal. In the last month, the onset of generalized edema was reported. Urinalysis showed a high protein level. He had low serum albumin, high serum triglycerides cholesterol. Complement levels were normal. The patient was diagnosed as minimal change disease with a renal biopsy. He was treated with oral prednisone.
Discussion: Minimal Change Disease is the most common cause of idiopathic nephrotic syndrome cases in children and the first step for therapy is the usage of corticosteroids. This is the first report of nephrotic syndrome associated with GSD IXb disease
Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria
Aim:L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene.Materials and Methods:Here we discuss the clinical and molecular characteristics in patients with L2HGA.Results:There were eight patients with L2HGA. Their median age was 16 (9.5-37) years. Five of them were female and three of them were male. The main symptoms of the patients were psychomotor retardation (8/8), cerebellar ataxia (5/8), extrapyramidal symptoms (7/8) and seizures (4/8). All patients had behavioral problems. Elevated urinary L-2-hydroxy (L-2-OH) glutaric acid was detected and the median level of urine L-2-OH glutaric acid at diagnosis was 146 (60-1460 nmol/mol creat). Characteristic magnetic resonance imaging findings including subcortical cerebral white matter abnormalities with T2 hyperintensities of the dentate nucleus, globus pallidus and putamen were detected. Two patients had homozygous R335X, two patients had homozygous R282Q, two patients had homozygous R302L and one patient had compound heterozygous P302L/A64T mutation in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene.Conclusion:Because of the slow progression of the disease, the diagnosis of the patients is usually belated. L2HGA must be considered in the differential diagnosis based on clinical findings and specific findings in cranial magnetic resonance imaging. In our study, one of our patients has a novel mutation
Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis
Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues, particularly within the brain. Here we presented a 3-year-old girl with hypotonia and dystonia diagnosed with GA-I although the repeated analysis of the carnitine profile and organic acid analyses were normal. The patient has motor, mental retardation, hypotonia. Her weight standard deviation score (SDS) was -1.86 SDS, height SDS was -0.55 SDS, head circumference SDS was -1.01. The physical examination was normal except severe hypotonia. Spot blood carnitine profile, blood amino acid, urine organic acid, lactic acid and pyruvic acid were normal in repeated analysis. Dystonia and spastic tetraparesis developed on her follow-up. Cranial magnetic resonance imaging revealed bilateral cortical atrophy and bilateral striatal and caudate nucleus T2 flair hyperintensities. In GCDH gene analysis p.Y123C (c.368A>G)/p.L340F (c.368A>G) mutation was found. There was no history of encephalopathy. The patient treated with levodopa and trihexyphenidyl and lysine-restricted diet. In the presence of bilateral striatal involvement and cortical atrophy and dystonia, GA-I should be kept in mind. Blood carnitine profile and urine organic acid analyses may not be consistent. It is important to evaluate the cases for genetic investigation
Anne ve Term Bebeklerin Vitamin D ve Kalsiyum Metabolizmasının Değerlendirilmesi ve Bebeklerin Kemik Gücünün Kantitatiif Ultrason ile Tayini
INTRODUCTION: Insufficient intake of vitamin D negatively
effects bone mineralization and turnover. Changes in mothers’
bone turnover during pregnancy effects bone mineral
composition of the fetus. The aim of this study was to evaluate
the factors, biochemical markers and bone structure assessed
by quantitative ultrasonography effecting vitamin D
metabolism.
METHODS: Ninety term newborn and their mothers included
in the study. Serum levels of Ca, P, alkaline phosphatase
(ALP), bone ALP (BALP), 1,25(OH)2D, 25(OH)D, parathyroid
hormone (PTH), and osteocalcine levels were analyzed from
the serums of mothers. Quantitative ultrasound from the tibial
bone was performed for all infants during the first 96 hours
RESULTS: Mean values for 25(OH)D and 1,25(OH)2D were
within normal ranges in mothers. Mean blood Ca levels of the
newborns was 10.1 ±0.6 mg/dl, and mean P levels of the
newborns was 6.2±1 mg/dl. Serum 25(OH)D values were high
in mother who used vitamin D supplementation (P=0.02), PTH
values were high and osteocalcine values were low in mothers
who did not used vitamin D supplementation (P=0.02 and
P=0.03, respectively). PTH values were low in newborns
whose mothers did not received vitamin D supplementation
(P=0.004). 25(OH)D values were high in mothers who
received Ca supplementation (P=0.009). SOS values of
newborns were 3127±107 (range, 2900-3389), and mean Z
scores were 0.3±0.7 (range, -1.4 - 2.6).
DISCUSSION AND CONCLUSION: Significant correlation
was observed between the SOS scores and Ca and ALP values
of the newborns. Assessment of the structure of bone with
quantitative ultrasound is a noninvasive and practical method.GİRİŞ ve AMAÇ: Yetersiz D vitamin alımı kemik
mineralizasyonunu ve döngüsünü olumsuz etkilemektedir.
Gebelikte annenin kemik döngüsü üzerindeki değişiklikler
fetusun kemik mineral içeriğinde değişikliğe neden olmaktadır.
Bu çalışmada fetal kemik minerilizasyonu üzerinde belirleyici
olan D vitamin metabolizmasını etkileyen faktörler,
biyokimyasal kemik göstergeleri ve yenidoğanlarda kantitatif
ultrason ile değerlendirilen kemik yapısı arasındaki ilişkinin
saptanması amaçlanmıştır.
YÖNTEM ve GEREÇLER: Celal Bayar Üniversitesi Tıp
Fakültesi Hastanesinde doğan 90 term bebek ve annesi
çalışmaya alındı. Serum kalsiyum, fosfor, alkalen fosfataz,
kemik alkalen fosfataz, 1,25(OH)2D, 25(OH)D, paratiroid
hormone ve osteokalsin düzeyleri ölçüldü. Yaşamın ilk 96 saati
içinde kantitatif ultrason cihazı ile tibial ölçümleri yapıldı.
BULGULAR: Annelerin ortalama 25(OH)D ve 1,25(OH)2D
düzeyleri normal sınırlarda saptandı. Yenidoğanlarda ölçülen
ortalama Ca düzeyleri ortalama 10.1 ±0.6 mg/dl, P düzeyleri
6.2±1 mg/dl saptandı. D vitamini desteği almayan annelerde
serum 25 (OH)D değerleri yüksek (p = 0.02), D vitamini
desteği almayan annelerde PTH değerleri yüksek ve
osteokalsin değerleri düşük bulundu (sırasıyla P = 0.02 ve p =
0.03). Anneleri D vitamini desteği almayan yenidoğanlarda
PTH değerleri daha düşüktü (P= 0.004). Ca takviyesi yapılan
annelerde 25 (OH) D değeri yüksekti (P = 0.009).
Yenidoğanların SOS değerleri 3127 ± 107 (2900-3389),
ortalama Z skoru 0.3 ± 0.7 (-1.4 - 2.6) idi.
TARTIŞMA ve SONUÇ: Yenidoğanların SOS skorları ile Ca
ve ALP değerleri arasında anlamlı korelasyon gözlendi. Kemik
yapısının kantitatif ultrason ile değerlendirilmesi, invaziv
olmayan ve pratik bir yöntemdir
33 soruda trigliseritler ve kardiyovasküler etkileri
Hafif-orta dereceli hipertrigliseridemi (HTG) yö- netimi sorun yaratmazken orta-ağır HTG tedavisi hem hasta hem de hekim için zorlu bir süreçtir. Yeni tedavi arayışları hız kesmeden devam etmektedir. Bu yeni tedavi ajanlarını anlamamızı kolaylaştırmak üze- re Şekil 1'de TG metabolizması içindeki ilaç hedefle- ri kaynak 4'ten uyarlanarak çizilmiştir.[4] HTG teda- visinde yer alan yeni tedavi modaliteleri Tablo 1'de özetlenmiştir4. Ramaswami U, Humphries SE. Inborn errors of lipoprotein metabolism presenting in childhood. In: Saudubray JM, Baumgartner MR, Walter J (eds). Inborn Metabolic Diseases, Diagnosis and Treatment, 6th Edition. Springer Berlin, Heidelberg 2016. p. 445–53. 5. Ahmad Z, Wilson DP. Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant wit
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