Inborn error of metabolism Essays

protein LMBD1 and ABCD4. LMBD1 is a 61 kDa lipocalin receptor-like protein locate to the lysosomal membrane while the ABCD4 is ATP-binding cassette (ABC) transporter [41]. Mutations in the gene encoding LMBD1 or ABCD4 are responsible for the rare inborn defects named cblF and cblJ respectively with similar phenotype and clinical symptoms. Defects in LMBD1 or ABCD4 resulting in trapping of free vitamin B12 in lysosomes and therefore fail to absorb oral vitamin B12 [41] [42] . [43]. The mechanism

ARTHROPATHY:- A RARE ENTITY Hemant Kumar†, Sagar Tyagi†, Parveen Hans†, Prof .Virinder Mohan* Department of Radiodiagnosis, Rohilkhand Medical college, Bareilly, (U.P.) India ABSTRACT Alkaptonuria is a metabolic disorder of tyrosine and phenylalanine metabolism in which there is absence of homogentisic acid oxidase whose deficiency leads to excessive accumulation of homogentisic acid in urine resulting in black color of urine on standing.[1] The disease is usually diagnosed in adults but a few cases in

INTRODUCTION : Phenylketoneuria also designated as PKU is defined as an inborn error of metabolism due to deficiency of the enzyme phenylalanine hydroxylase (PAH). This is a rare genetic condition in which occurs inability to metabolise or break down the essential amino acid phenylalanine to tyrosine due to enzyme deficiency. Amino acids are considered as the building blocks of protein and so does this amino acid i.e. phenylalanine. Phenylalanine is an essential amino acid and hence, finds a role

The ability to reproduce and transfer genetic information is the most important and fundamental property of all living organisms. All genetic information that determines structure and function is inherited from parents to offspring. Similarly and on a more fundamental level, new cells arise from pre-existing cells, containing genetic information replicated and transferred from parents to progeny cells in the form of DNA. In this way, DNA forms the genetic basis and building blocks of life and represents

Serum Ceruloplasmin: Measurement of serum ceruloplasmin is safe and simple screening test for WD. A serum value of <20 mg/dl is considered as significant [10]. Falsely low value may also be seen in other conditions (Menkes’ disease, aceruloplasminemia, nephritic syndrome, protein- losing enteropathy) and in chronic liver disease of any cause. In contrast, ceruloplasmin may become falsely elevated into the normal range in Wilson’s disease patients by infection or inflammation (since it is an acute

Is it ethical to conduct stem cell therapy at this early stage? Introduction: Stem cell is found in the early stage of the embryo. During early life and growth of the body stem cells have the incredible potential to develop into many different cell types. Embryonic stem cells can differentiate from somatic stem cells due to its potentiality of embryonic stem cells developing into many different cell types where as somatic stem cells doesn’t (Stemcells.nih.gov, 2015). There are over 200 different

was found by Michael Lesch and William Nyhan and has provided the first detailed clinical description of Lesch-Nyhan disease in 1964, is a rare inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism: hypoxanthine-guanine phosphoribosyltransferase (HGPRT). (1) Epidemiology The lesch-Nyhan disease, it is a rare genetic disorder that can be transmitted at birth. Estimate show that at birth it affect 1/380000 and 1/235000 live births. The lesch

A condition marked by impaired muscle coordination (spastic paralysis) and/or other disabilities, typically caused by damage to the brain before or at birth. Cerebral palsy is considered a neurological disorder caused by a non-progressive brain injury or malformation that occurs while the child’s brain is under development. It is a neurological disorder caused by either a brain injury or malfunction that occurs when a child’s brain is under development. It primarily affects the bodies’ movement and

FIG : NORMAL HEART FIG : HYPERTROPHIC HEART (Hypertrophic cardiomyopathy,Cleveland clinic) Above figure in the left shows physiology of the normal heart while the right one shows physiology of hypertrophic heart having leaky mitral valve, thickened septum and narrowed outflow tract. Symptoms of hypertrophic cardiomyopathy: (Marian Ali .,2010) • Arrhythmias: This condition mainly occurs when heart rhythms of the patient are irregular