scholarly journals Financial justification of investments into special diet for patients with phenylketonuria

2010 ◽  
Vol 63 (11-12) ◽  
pp. 771-774 ◽  
Author(s):  
Georgios Konstantinidis ◽  
Dobrila Radovanov ◽  
Nada Konstantinidis
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Genetic Disorder ◽  
Autosomal Recessive Disorder ◽  
First Year ◽  
Protein Supplement ◽  
Special Diet ◽  
Low Protein ◽  
The Republic ◽  
First Year Of Life ◽  
Good Prevention

Introduction. Phenylketonuria is a genetic disorder of metabolism of amino acid phenylalanine, which results in the absence of phenylalanine hydroxylase, an enzyme that catalyzes the conversion of phenylalanine into tyrosine. It is an autosomal recessive disorder. Screening for phenylketonuria in Voivodina started in 2003. Screening data are shown in this paper. Treatment of phenylketonuria is based on a strict, life long, low protein diet with the controlled phenylalanine intake. Diet must start early, in the first weeks of life. The aim of the diet is to reduce natural protein intake and to cover protein needs by special phenylalanine free protein products. There is a big variety of formulas found available on the market for treatment of phenylketonuria. All of them are free of phenylalanine and very expensive. Discussion. Till May 2005 there was no refunding for these products in our country. According to the decision made by the Provincial Secretariat for Health, providing all children with protein supplement in their first year of life started at the Institute for Child and Youth Healthcare. In September 2007 the Republic Fund for Health Insurance started to refund protein supplement and low protein products for all children up to the age of 18 years. Conclusion. Besides all technical and organizational difficulties associated with this work, this paper also shows how, by good prevention of phenylketonuria complications, much more money can be saved than it has been invested, even in countries with low amounts of money allocated for this purpose (in absolute figures).

SUPRAVENTRICULAR TACHYCARDIA WOLFF-PARKINSON-WHITE SYNDROME IN CHILDREN OF THE REPUBLIC OF BELARUS: AGE AND SEX CHARACTERISTICS, IDENTIFICATION, ELECTROPHYSIOLOGICAL STRUCTURE

2021 ◽  
pp. 110-113
Author(s):  
Strogiy V.V. ◽  
◽  
Zasim E.V. ◽  
Drozdovsky K.V. ◽  
Kadochkin V.O. ◽  
...  
Keyword(s):  
Neonatal Period ◽  
Electrophysiological Study ◽  
Conduction System ◽  
Sex Characteristics ◽  
First Year ◽  
Depth Study ◽  
The Republic ◽  
First Year Of Life ◽  
Supraventricular Tachycardias ◽  
Wolff Parkinson White Syndrome

The goal is to establish the frequency of supraventricular tachycardias in children of the Republic of Belarus, to determine the structure and characteristics of these rhythm disturbances. An in-depth study of the properties of the conduction system of the heart was carried out by performing in the course of the esophageal electrophysiological study 108 children. A more rare detection of SVT in children in the neonatal period, in the first year of life and maximum detection at the age of 17 years, a comparatively rare finding (11.8 %) of concomitant pathology in children with SVT.

Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life

2014 ◽  
Vol 433 ◽  
pp. 1-4 ◽  
Author(s):  
Hironori Nagasaka ◽  
Hirokazu Tsukahara ◽  
Yoshiyuki Okano ◽  
Ken-ichi Hirano ◽  
Toshihiro Sakurai ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
First Year ◽  
First Year Of Life

scholarly journals Kleefstra syndrome and epilepsy

2020 ◽  
Vol 14 (4) ◽  
pp. 32-37
Author(s):  
R. G. Gamirova ◽  
N. G. Lyukshina ◽  
R. R. Gamirova ◽  
M. E. Farnosova
Keyword(s):  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Underlying Disease ◽  
Congenital Defects ◽  
First Year ◽  
Intellectual Deficiency ◽  
Pharmacoresistant Epilepsy ◽  
Epileptic Spasms ◽  
Kleefstra Syndrome ◽  
First Year Of Life

Kleefstra syndrome is a rare autosomal dominant genetic disorder caused by haploinsufficiency of the EHMT1 (Euchromatic Histone MethylTransferase 1). Patients with Kleefstra syndrome have following most common symptoms: moderate or severe intellectual deficiency, absence of speech, significant diffuse muscular hypotonia, micro-brachycephaly, congenital defects of heart, kidneys, genitourinary tract and recognizable dysmorphic features of face. The article presents 2 similar clinical cases of Kleefstra syndrome in combination with epilepsy. Both patients, along with a typical clinical picture of the underlying disease, have serial epileptic spasms with an onset after first year of life, modified hypsarrhythmia with tendency to synchronization on the electroencephalogram, pharmacoresistant epilepsy. This indicates that Kleefstra syndrome can include epilepsy as one of symptoms of the disease.

DEVELOPMENT OF THE COMPONENT COMPOSITION OF AMINO ACID MIXTURES FOR THE NUTRITION OF PATIENTS WITH PHENYLKETONURIA

2021 ◽  
Vol 14 (1(51)) ◽  
pp. 31-42
Author(s):  
V. V. Shylau ◽  
H. A. Zhurnia
Keyword(s):  
Amino Acid ◽  
Component Composition ◽  
Hereditary Disease ◽  
Pku Phenylketonuria ◽  
Severe Damage ◽  
Special Diet ◽  
Low Protein ◽  
Amino Acid Mixtures ◽  
The Central Nervous System ◽  
The Republic

According to the Ministry of Health in the Republic of Belarus in 2019, there were about 500 patients with phenylketonuria (PKU). Phenylketonuria is a hereditary disease associated with a violation of the metabolism of amino acids, in particular phenylalanine (FA). This disease is accompanied by the accumulation of phenylalanine and its toxic products in the tissues, which leads to severe damage to the central nervous system, manifested in the form of impaired mental development. Many years of world experience shows that for the treatment of such patients, a special diet is prescribed using amino acid mixtures that do not contain phenylalanine or contain it in small amounts, as well as low-protein products based on starch, which are necessary to ensure an adequate energy value of the diet. The article presents the stages of development of the component composition of domestic amino acid mixtures for the nutrition of patients with phenylketonuria, taking into account their age characteristics.

scholarly journals Incidental Finding of MEGDEL Syndrome Based on Neuroimaging: Case Report

2021 ◽  
pp. 429-433
Author(s):  
Salma A. Alshammari ◽  
Fouad A. Alghamdi ◽  
Rami Alhazmi ◽  
Shaikhah Aldossary
Keyword(s):  
Incidental Finding ◽  
Molecular Genetic ◽  
Cerebellar Atrophy ◽  
Failure To Thrive ◽  
Autosomal Recessive Disorder ◽  
Disease Diagnosis ◽  
First Year ◽  
Pathogenic Variants ◽  
Clinical Presentations ◽  
First Year Of Life

MEGDEL 3-methylglutaconic (MG) aciduria, deafness, encephalopathy, Leigh-like syndrome is an autosomal recessive disorder associated with infantile hypoglycemia, progressive psychomotor developmental delay, cerebellar atrophy with lesions in the basal ganglia, spasticity, dystonia, deafness, and transient liver problems, which typically occur in the first year of life. Other clinical presentations include failure to thrive, epilepsy, and optic nerve atrophy. The serine active site-containing 1 (SERAC1) mutation is localized at the mitochondria-associated membranes, which are responsible for encoding a phosphatidylglycerol remodeler essential for both mitochondrial function and intracellular cholesterol trafficking and is thus responsible for the disease. Diagnosis is confirmed by the elevation of and concentrations of 3-MG acid and 3-methylglutaric acid in the urine or by identification of bi-allelic SERAC1 pathogenic variants on molecular genetic testing. Different pathological variants of SERAC1 have been identified in MEGDEL syndrome to date. Here, we report a case of a child with MEGDEL syndrome due to SERAC1 mutation. The child presented with accidental finding by CT showing hypodensity on bilateral symmetric anterior putamen and caudate abnormal. Neurological examination was unremarkable. This report presents a new neuroimaging finding by CT of MEGDEL syndrome.

scholarly journals A rare case report of unusual presentation of Edward’s syndrome (trisomy 18)

2018 ◽  
Vol 5 (4) ◽  
pp. 1685
Author(s):  
Meenakshi S. Kushwah ◽  
Ajay Gaur
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Rare Case ◽  
Genetic Disorder ◽  
Failure To Thrive ◽  
First Year ◽  
Extra Copy ◽  
Edwards Syndrome ◽  
Rare Case Report ◽  
First Year Of Life

Edwards syndrome, a rare genetic disorder is characterized by the extra copy of chromosome 18. About 50% babies with this syndrome do not survive one week of age and approx. 95% do not survive past the first year of life. The syndrome is usually characterized by dysmorphic facies, microcephaly, flexion finger deformity and rocker- bottom feet. There is involvement of cardiacvascular and renal system with intellectual disability. Authors report a case of Edwards syndrome presenting with failure to thrive and developmental delay in the absence of usual clinical features of Edwards syndrome.

scholarly journals A rare case of Vitamin D dependent rickets type II: a case report

2019 ◽  
Vol 6 (5) ◽  
pp. 2209
Author(s):  
Raghava Badabagni ◽  
Rambabu Bodduluri ◽  
P. V. Prudhvi Raju
Keyword(s):  
Vitamin D ◽  
Vitamin D3 ◽  
Receptor Gene ◽  
Autosomal Recessive Disorder ◽  
First Year ◽  
High Dose ◽  
Type Ii ◽  
Recommended Treatment ◽  
Physiological Dose ◽  
First Year Of Life

Vitamin D-dependent type II rickets (VDDRII) is a rare autosomal recessive disorder caused by mutation in the vitamin D receptor gene, leading to end-organ resistance to 1,25(OH)2 vitamin D3. It presents with refractory rickets and growth retardation presenting in the first year of life. It is frequently associated with alopecia totalis. Due to target organresistance, its response to vitamin D is poor. The recommended treatment is giving supra physiological dose of 1,25(OH)2 vitamin D3 and a high dose of oral or intravenous calcium. The response of alopecia to treatment is generally poor. We present a 3 ½ year-old male child with VDDR II whose alopecia and rickets partially responded to 1,25(OH)2 vitamin D3.

scholarly journals 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces

2020 ◽  
Author(s):  
Sarah Catharina Grünert ◽  
Jörn Oliver Sass
Keyword(s):  
Autosomal Recessive ◽  
Coenzyme A ◽  
Autosomal Recessive Disorder ◽  
First Year ◽  
Metabolic Decompensation ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Lyase Deficiency ◽  
First Year Of Life

Abstract Background 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL . Method We performed a systematic literature search to identify all published cases. 211 patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings and mutation data are highlighted and discussed. An overview on all published HMGCL variants is provided. Results More than 95 % of patients presented with acute metabolic decompensation. Most patients manifested within the first year of life, 42.4 % already neonatally. Very few individuals remained asymptomatic. The neurologic long-term outcome was favorable with 62.6 % of patients showing normal development. Conclusion This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations.

scholarly journals Infant with infantile spasms: early intervention improves neurodevelopmental outcome

2021 ◽  
Vol 8 (9) ◽  
pp. 1605
Author(s):  
Rajeshwari Narayanan ◽  
Aparna Gilbert ◽  
Savitha Arunachalam
Keyword(s):  
Autistic Spectrum Disorder ◽  
Early Recognition ◽  
Genetic Disorder ◽  
Neurodevelopmental Outcome ◽  
Skin Lesions ◽  
Infantile Spasms ◽  
Spectrum Disorder ◽  
First Year ◽  
Autistic Spectrum ◽  
First Year Of Life

Tuberous sclerosis complex is a multisystem genetic disorder with characteristic skin lesions and variable neurological manifestations like seizures, cognitive impairment and autistic spectrum disorder. Epilepsy and infantile spasms during first year of life are risk factors for mental impairment and Autistic spectrum disorder (ASD). In asymptomatic TSC infants, hypsarrhythmia pattern in EEG suggests early treatment with vigabatrin to improve neurodevelopmental outcome. Early recognition of skin lesions by pediatrician is crucial for timely intervention.

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