Presentation on theme: "Inborn errors of Metabolism(IEM)"— Presentation transcript: 1 Inborn errors of Metabolism(IEM) Romana Siddique 2 Inborn errors of metabolism Many autosomal recessive traits reflect mutations in key metabolic enzyme and result in [slideplayer.com]

[…] lyze (liz) SYN: lyse. l-rhamnose (Rha) (ram′nos) A methylpentose present in a number of plant glycosides, found in free form in poison sumac, in lipopolysaccharides of Enterobacteriaceae, and in rutinose (a disaccharide). [theodora.com]

PROTEIN METABOLISM PowerPoint Presentation Download Presentation PROTEIN METABOLISM - - - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - - - Presentation Transcript PROTEIN METABOLISM Kadek Rachmawati [slideserve.com]

Neurologic presentation with episodes of coma is less common. Moderate hepatosplenomegaly is present. Muscular hypotonia and hypotrophy are observed from early infancy. [ncbi.nlm.nih.gov]

• Weakness

  Lysinemia meaning in Hindi (हिन्दी मे मीनिंग ) is an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation.English definition [dict.hinkhoj.com]

  • LYSINEMIA (noun) The noun LYSINEMIA has 1 sense: 1. an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation Familiarity information [audioenglish.org]

  […] lysinemia是什么意思及用法 沪江词库精选lysinemia是什么意思、英语单词推荐、用法及解释、中英文句子翻译、英语短语 赖氨酸血症 英语解释 an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation [hujiang.com]

  英 [laɪ'zaɪniːmiə] 　 　 美 [laɪ'zaɪniːmiə] 　 　 赖氨酸血症 new lysinemia的英文翻译是什么意思，词典释义与在线翻译： 英英释义 Noun: an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness [dict.cn]

  Definitions of lysinemia noun an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation DISCLAIMER: These example sentences appear [vocabulary.com]

• Asymptomatic

   Also k/a Acyl CoA dehydrogenase deficiency/ Methyl butyryl glycinuria  Gene is located on chr 10q25-q26  Usually asymptomatic where certain kids have developmental delay/ epilepsy.  Plasma & urinary carnitine and glycine conjugates of 2-methyl [slideshare.net]

  DISORDERS OF UREA CYCLE :UCD Enzyme deficiencyHyperammonaemia type I 1Hyperammonaemia type II 2Citrulinemia 3Arginino succinat aciduria 4Hyperargininaemia 5 Resolution of Clinical Case:Genetics Gene for OTC found on X-chromosome Women are carriers usually asymptomatic [cupdf.com]

  Enzyme deficiency • Hyperammonaemia type I 1 • Hyperammonaemia type II 2 • Citrulinemia 3 • Arginino succinat aciduria 4 • Hyperargininaemia 5 Resolution of Clinical Case: Genetics • Gene for OTC found on X-chromosome • Women are carriers • usually asymptomatic [slideserve.com]

  DISORDERS OF UREA CYCLE : UCD Enzyme deficiency Hyperammonaemia type I Hyperammonaemia type II Citrulinemia Arginino succinat aciduria Hyperargininaemia 32 Resolution of Clinical Case: Genetics Gene for OTC found on X-chromosome Women are carriers usually asymptomatic [slideplayer.com]

• Fishing

  Proverbs of the week "A man needs a woman like a fish needs a bicycle." (English proverb) "Poor people have big TVs. Rich people have big libraries." (unknown source) "Nice guys finish last." [audioenglish.org]

  NITROGEN ATOMS CATABOLISM Transamination reactionsOxidative Deamination reactionsAmonia (NH3) production and transportUrea cycle The different forms of excreted nitrogenUreotelic (mammals) : urea Uricotelic (birds, reptiles) : uric acidAmmonotelic (fish [cupdf.com]

  CATABOLISM • Transamination reactions • Oxidative Deamination reactions • Amonia (NH3) production and transport • Urea cycle The different forms of excreted nitrogen • •Ureotelic (mammals) : urea • •Uricotelic (birds, reptiles) : uric acid • •Ammonotelic (fish [slideserve.com]

  ATOMS CATABOLISM Transamination reactions Oxidative Deamination reactions Amonia (NH3) production and transport Urea cycle 14 The different forms of excreted nitrogen •Ureotelic (mammals) : urea •Uricotelic (birds, reptiles) : uric acid •Ammonotelic (fish [slideplayer.com]

• Fatigue

  Venturing too far into the anaerobic zone will generate too much lactic acid, reduce the amount of work you can do within your training session, and risk lasting fatigue and overreaching 投入太多氧債區的運動會產生太多乳酸，降低在此期 間 的 訓 練 量，並導致疲勞持續和 訓 練 過量的風險。 [dict.site]

  LE cells may appear in rosettes where there are several neutrophils vying for an individual complement covered protein. 26 Symptoms Non-specific: Fatigue Weight loss Malaise = generally feeling ill Fever Anorexia (over time) Arthritis 90% of patients [slideplayer.com]

• Swelling

  21 Symptoms of LNS All of the following are a result of an overproduction of Uric Acid Urate crystal formations, which look like orange sand, are deposited in diapers of the babies Kidney stones Blood in the urine Dysphagia (difficulty swallowing) Swelling [slideplayer.com]

  例文帳に追加 The silk thread of the medical base materials such as an artificial blood vessel and an artificial organ is formed by removing sericin constituting the sheath part of the silk thread, immersing it in pure water to perform swelling treatment and [ejje.weblio.jp]

• Vomiting

  Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death. [slideplayer.com]

  Rapid increase in NH3 may lead to episodes of irritability, refusal to eat and vomiting ARGININEMIA 74. [slideshare.net]

  Therapy with ondansetron can be started to decrease vomiting. Complete restriction of protein for more than 24-48 hours is not recommended as the individual will become protein catabolic for essential amino acids. [ncbi.nlm.nih.gov]

  Young children with acidosis (accumulation of acid in the body), severe vomiting and diarrhea, or urine with an abnormal color or odor, are also screened with a urine test for specific amino acid levels. [encyclopedia.com]

  […] deficiencyHyperammonaemia type I 1Hyperammonaemia type II 2Citrulinemia 3Arginino succinat aciduria 4Hyperargininaemia 5 Resolution of Clinical Case:Genetics Gene for OTC found on X-chromosome Women are carriers usually asymptomatic may experience migraines, vomiting [cupdf.com]

• Diarrhea

  Young children with acidosis (accumulation of acid in the body), severe vomiting and diarrhea, or urine with an abnormal color or odor, are also screened with a urine test for specific amino acid levels. [encyclopedia.com]

  Lysinuric protein intolerance (LPI) typically presents after an infant is weaned from breast milk or formula; variable findings include recurrent vomiting and episodes of diarrhea, episodes of stupor and coma after a protein-rich meal, poor feeding, aversion [ncbi.nlm.nih.gov]

• Thrombosis

  低脂肪食 low-protein diet 低タンパク質食 low-protein diet 低タンパク食 low-salt diet 低塩食 low-sodium diet 低塩食 lower extremity amputation prevention 下肢切断予防 lower-limb amputation 下肢切断 lower-limb blood flow 下肢血流 lower-limb ischemia 下肢虚血 lower-limb perfusion 下肢灌流 lower-limb thrombosis [jds.or.jp]

  • Symptoms • Thrombosis • ... [vdocuments.mx]

  Silver nitroprusside test Methionine loading test  TREATMENT: Principle of treatment is to reduce the elevated levels of homocysteine thus preventing its dreadful complication thrombosis. [slideshare.net]

• Muscle Weakness

  It is characterized by muscle weakness and mental retardation. [medical-dictionary.thefreedictionary.com]

  A few patients have been reported to have mild proximal muscle weakness. Tubular aggregates in type 2 skeletal muscle fibres and ultrastructural abnormalities in the mitochondria of the skeletal muscle and liver have been described(5). [indianpediatrics.net]

• Suggestibility

  The results suggested that both patients had a heretofore undescribed inborn error of lysine metabolism. This paper amplifies our previous report 1 on this condition. [nejm.org]

  The hyperpipecolatemia in Zellweger syndrome becomes manifest after the major symptoms are already evident, suggesting that it is not a significant contributing factor. [ommbid.mhmedical.com]

  Instructions Suggested Use: Adults take 3 capsules daily. Keep out of reach of children. Warning: Contraindicated in those with hyper-lysinemia/hyperlysineuria. [lotuslight.com]

  Sorry if there's a few unusual suggestions! The algorithm isn't perfect, but it does a pretty good job for common-ish words. [relatedwords.org]

• Lethargy

  Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death. [slideplayer.com]

   CLINICAL SYMPTOMS present at an early stage with progressive encephalopathy Poor feeding with developmental delay Vomiting, Dehydration, Acidosis Hypotonia, Seizures, Lethargy  TREATMENT: Low protein diet Carnitine replacement Antibiotics for [slideshare.net]

  […] deficiencyHyperammonaemia type I 1Hyperammonaemia type II 2Citrulinemia 3Arginino succinat aciduria 4Hyperargininaemia 5 Resolution of Clinical Case:Genetics Gene for OTC found on X-chromosome Women are carriers usually asymptomatic may experience migraines, vomiting, lethargy [cupdf.com]

  Hyperammonaemia type II 2 • Citrulinemia 3 • Arginino succinat aciduria 4 • Hyperargininaemia 5 Resolution of Clinical Case: Genetics • Gene for OTC found on X-chromosome • Women are carriers • usually asymptomatic • may experience migraines, vomiting, lethargy [slideserve.com]

• Asthenia

  […] hy·per·ly·si·ne·mi·a ( hī'pĕr-lī'si-nē'mē-ă ), [MIM*238700] A metabolic disorder characterized by mental retardation, convulsions, anemia, and asthenia; associated with an abnormal increase of the amino acid lysine in the circulating blood due to a deficiency [medical-dictionary.thefreedictionary.com]

• Ketonuria

  Nama Penyakit Gangguan Hiperlisinemia,Hiper- lisin lisinemia persisten  Sistinuria,Sistinosis, sistein, metionin Homosistinuria  Hipervalinemia,Maple leusin,valin, syrup urine disease, isoleusin Intermitent branched chain ketonuria,Isovale- ricacidemia [pt.slideshare.net]

  […] emiaCARBON SKELETONS CATABOLISM DISORDERS : Disease Amino AcidHiperlisinemia,Hiper- lisin lisinemia persistenSistinuria,Sistinosis, sistein, metionin HomosistinuriaHipervalinemia,Maple leusin,valin, syrup urine disease, isoleusin Intermitent branched chain ketonuria [cupdf.com]

  Hidroksiprolin- prolin,hip emia Disease Amino Acid • Hiperlisinemia,Hiper- lisin lisinemia persisten • Sistinuria,Sistinosis, sistein, metionin Homosistinuria • Hipervalinemia,Maple leusin,valin, syrup urine disease, isoleusin Intermitent branched chain ketonuria [slideserve.com]

  Hidroksiprolin prolin,hip emia 38 Disease Amino Acid Hiperlisinemia,Hiper- lisin lisinemia persisten Sistinuria,Sistinosis, sistein, metionin Homosistinuria Hipervalinemia,Maple leusin,valin, syrup urine disease, isoleusin Intermitent branched chain ketonuria [slideplayer.com]

• Hyperammonemia

  This retrospective study of patients with different types of hyperammonemia shows that hyperlysinemia is not automatically associated to hyperammonemia (lysinemia is expressed as the percent of total aminoacidemia). [pubmed.ncbi.nlm.nih.gov]

  GANGGUAN PADA SIKLUS UREA UCD Enzyme deficiency  Hyperammonemia type I 1  Hyperammonemia type II 2  Citrulinemia 3  Arginino suksinat aciduria 4  Hyperargininemia 5 38. KATABOLISME ATOM C 39. [pt.slideshare.net]

  Disorders 445 Disorders of Creatine Metabolism 467 Peroxisomal Disorders 481 Hyperoxaluria 509 Disorders of ValineIsoleucine Metabolism 191 190 Various Organic Acidurias 215 Disorders of the yGlutamyl Cycle 233 Disorders of Sulfur Amino Acids 243 Inherited Hyperammonemias [books.google.com]

  Episodic unconsciousness with hepatomegaly.  DIAGNOSIS: Low arginine along with hyperammonemia. [slideshare.net]

  Arginase. 27 UREA FORMATION 28 Urea Formation Occurs primarily in liver; excreted by kidney Principal method for removing ammonia Hyperammonemia: Defects in urea cycle enzymes (CPS, OTC, etc.) [slideplayer.com]

Specific treatment not necessary. [slideshare.net]

Treatment of Acute Hyperammonemic Crises Pharmacologic management. [ncbi.nlm.nih.gov]

R. 40 % Treatment of mother :- Low PHA diet to maintain Sr .PHA level < 10 mgm %. throughout pregnancy. [jalananil.tripod.com]

(January 2017) Treatment[edit] This section is empty. You can help by adding to it. [en.wikipedia.org]

SYN: ergine, lysergamide. l. diethylamide (LSD) peripherally, a serotonin antagonist; 1 to 2 μg per kg induces hallucinatory states of a visual rather than auditory nature; its use may precipitate psychoses; it has been occasionally used in the treatment [theodora.com]

"The prognosis of hyperlysinemia: an interim report". Am J Hum Genet. 35 (3): 438–442. PMC 1685659. [en.wikipedia.org]

Am J Physiol Cell Physiol 293: C540–1 CrossRef PubMed Google Scholar Bröer S (2008) Apical transporters for neutral amino acids: physiology and pathophysiology. [link.springer.com]

Despite clinical, biochemical and mole-cular characterization of gyrate atrophy, the exact pathophysiologic mechanism of the progressive retinal degeneration is unknown and several hypotheses have been proposed. [indianpediatrics.net]

 PATHOPHYSIOLOGY:  Mutations in the gene lead to defective transport protein synthesis in the kidney which result in lack of proper reabsorption of aminoacids Lysine, Arginine, Ornithine, Cysteine.  As the levels of cysteine in the urine increase [slideshare.net]

Pathophysiology. LPI is an inborn error of metabolism caused by pathogenic variants in SLC7A7, the gene encoding the light chain of system y + L. [ncbi.nlm.nih.gov]

Treat your inpatient and ambulatory patients more effectively with the absolute latest on new topics such as quality improvement and patient care safety *school violence and bullying * preventive measures * vitamin deficiencies * adolescent rape * effect [books.google.com]

This product is not intended to diagnose, treat, cure, or prevent any disease. Supplement Facts Guaranteed Free of: Yeast, Wheat, Corn, Milk, Rye, Soy, Oats, Barley, Sugar, Starch, Preservatives, Artificial Color or Flavor. [lotuslight.com]

It is knwon to prevent the mental retardation in offsprings and gonadal failures in female babies. Thyroid function abnormalities in mother and its effect on fetus. [jalananil.tripod.com]

Silver nitroprusside test Methionine loading test  TREATMENT: Principle of treatment is to reduce the elevated levels of homocysteine thus preventing its dreadful complication thrombosis. [slideshare.net]

Information and statements regarding dietary supplements have not been evaluated by the Food and Drug Administration and are not intended to diagnose, treat, cure, or prevent any disease or health condition. [amazon.com]