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]

• Short Stature

  […] attention spans, and short stature.[8] Diagnosis[edit] This section is empty. [en.wikipedia.org]

  Pseudo hypo para thyroidism type I a obesity, short stature, Brachydactyly Ectopic calcification. [jalananil.tripod.com]

  These individuals in general present with Short stature with failure to thrive Unsteady gait with episodes of fainting Intermittent ataxia Nystagmus Psychiatric problems HARTNUP DISEASE 87.  DIAGNOSIS: Excessive amounts of aminoacid such as tryptophan [slideshare.net]

  In a large Italian pedigree, homozygosity for c.1381_1384dupATCA gave rise to different clinical presentations: severe short stature with pancreatic and renal involvement in a girl; early pulmonary alveolar proteinosis causing death in a boy; a very mild [ncbi.nlm.nih.gov]

• Fever

  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]

  Failure to thrive, hepatosplenomegaly, fever, hypertriglyceridemia, increased serum ferritin concentration, anemia, and other blood abnormalities suggest acquired or familial hemophagocytic lymphohistiocytosis. Autoimmune disorders. [ncbi.nlm.nih.gov]

• Pediatric Disease

  PMID: 9973542 [Hyperammonemia in pediatric diseases]. Cathelineau L. Cathelineau L. Arch Fr Pediatr. 1979 Jul-Aug;36(7):724-35. Arch Fr Pediatr. 1979. PMID: 394697 Review. French. No abstract available. [pubmed.ncbi.nlm.nih.gov]

• Malaise

  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]

• Aspiration

  Erythroblastophagocytosis and decreased megakaryocytes may be found in bone marrow aspirate. Hematologic findings also include slight normochromic or hypochromic anemia, leukopenia, thrombocytopenia, and subclinical intravascular coagulation. [ncbi.nlm.nih.gov]

• Nausea

  […] the following: Plasma concentrations of amino acids to identify deficiencies of essential amino acids induced by the protein-restricted diet (similar to that used in urea cycle disorders ) Attention to early signs of hyperammonemia including lethargy, nausea [ncbi.nlm.nih.gov]

• Sweating

   C/F: Most of the times it remains asymptomatic and unnoticed Cabbage like odour of breath, sweat and urine HYPERMETHIONINEMIA 43.  INVESTIGATIONS: MAT I/III deficiency- Methionine levels are elevated 30 times than normal Concentrations of SAH [slideshare.net]

• Severe Short Stature

  In a large Italian pedigree, homozygosity for c.1381_1384dupATCA gave rise to different clinical presentations: severe short stature with pancreatic and renal involvement in a girl; early pulmonary alveolar proteinosis causing death in a boy; a very mild [ncbi.nlm.nih.gov]

• Irritability

  […] in the urine Dysphagia (difficulty swallowing) Swelling of the joints Vomiting Athetosis (uncontrolled spastic muscle movements of the arms and legs) Involuntary writhing movements Chorea (purposeless repetitive movements) Moderate mental retardation Irritability [slideplayer.com]

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

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]

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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]