Presentation
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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]
Congenital (present at birth) enzyme deficiencies that affect amino acid metabolism or congenital abnormalities in the amino acid transport system of the kidneys creates a condition called aminoaciduria. [encyclopedia.com]
Presentation on theme: "PROTEIN METABOLISM Kadek Rachmawati. [slideplayer.com]
Entire Body System
- Gangrene
Fermentation Products Alcohol and Carbon Dioxide Yeast mostly Lactic Acid Humans, muscles without oxygen Bacteria (Lactobacillus-yogurt) Butyric Acid Rancid butter, Clostridium-gangrene Acetoin Butanediol fermentation in Klebsiella [pt.slideshare.net]
Treatment
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]
Some congenital amino acid metabolic defects cause mental retardation that can prevented with prompt treatment of the newborn. One of the best known examples of this is phenylketonuria (PKU). [encyclopedia.com]
Severe neurological defects in neonates Treatment: Stop protein intake Dialysis Increase ammonia excretion: Na benzoate etc. [slideserve.com]
Severe neurological defects in neonates Treatment: Stop protein intake Dialysis Increase ammonia excretion: Na benzoate etc. 29 UREA CYCLE : 30 UREA CYCLE DISORDERS Hereditary deficiency of any of the Urea Cycle enzymes leads to hyperammonemia - elevated [slideplayer.com]
Pathophysiology
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]
Prevention
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]
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]
Prevention of Primary Manifestations The prevention of metabolic abnormality is the goal of treatment. Long-term management is based on protein-restricted diet and administration of citrulline (see Treatment of Manifestations ). [ncbi.nlm.nih.gov]
Some congenital amino acid metabolic defects cause mental retardation that can prevented with prompt treatment of the newborn. One of the best known examples of this is phenylketonuria (PKU). [encyclopedia.com]
低比重リポタンパク質 low-density lipoprotein cholesterol 低比重リポタンパクコレステロール low-density lipoprotein cholesterol 低比重リポタンパク質コレステロール low-fat diet 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 [jds.or.jp]