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
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Weakness
[…] 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]
It is characterized by muscle weakness and mental retardation. [medical-dictionary.thefreedictionary.com]
[…] lysinemia 名 特定の酵素の欠乏がアミノ酸リジンを新陳代謝できないことにつながる先天性代謝異常 lysinemia 名詞 特定の酵素の欠乏がアミノ酸リジンを新陳代謝できないことにつながる先天性代謝異常 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 [ei-navi.jp]
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Physician
The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function. [books.google.com]
Surveillance Individuals with LPI should be referred for follow up to physicians with expertise in the treatment of inborn errors of metabolism. [ncbi.nlm.nih.gov]
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Falling
辞書 RANKING / 単語ランキング 1位 lie 2位 shape 3位 remit 4位 leave 5位 talk 6位 visit 7位 bring 8位 fall 9位 grant 10位 show HISTORY / 最近見た単語 履歴を消す lysinemia zidovudine INDEX / 英ナビ! [ei-navi.jp]
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Malnutrition
Growth retardation is commonly observed in children with LPI and is usually related to protein malnutrition. In some cases, growth hormone deficiency or arginine depletion causing impaired secretion of growth hormone is observed. [ncbi.nlm.nih.gov]
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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]
Musculoskeletal
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Muscle Weakness
It is characterized by muscle weakness and mental retardation. [medical-dictionary.thefreedictionary.com]
Psychiatrical
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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]
Hepatosplenomegaly, interstitial lung disease, and hematologic manifestation may suggest LSDs. Malabsorptive diseases. [ncbi.nlm.nih.gov]
The pattern is abnormal in the urine test, suggesting additional tests need to be done to determine which amino acids are involved. [encyclopedia.com]
This suggests that maternal tyrosinemia II may ptoduce a fetal effect similar to that of maternal P.K.U. [jalananil.tripod.com]
Urogenital
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Secondary Amenorrhea
Review of research on corrosion behavior of al - li alloys 鋰合金腐蝕性能研究綜述 Experiences of li gu ang rong in treating secondary amenorrhea 李光榮治療繼發閉經的經驗 These include interviews of chin tsi - ang, ng see - yuen, grace ch ang, wei wei, sek kin, li li hua and [dict.site]
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Amenorrhea
Review of research on corrosion behavior of al - li alloys 鋰合金腐蝕性能研究綜述 Experiences of li gu ang rong in treating secondary amenorrhea 李光榮治療繼發閉經的經驗 These include interviews of chin tsi - ang, ng see - yuen, grace ch ang, wei wei, sek kin, li li hua and [dict.site]
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Hematuria
In a study on 39 Finnish individuals with LPI, proteinuria and hematuria were observed in 74% and 38%, respectively. [ncbi.nlm.nih.gov]
Neurologic
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Convulsions
[…] 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]
Convulsions in the baby. 4. Typical phenotype. 5. May be associated with congenital heart defects. Mothers with PKU have a high incidence of recurrent spontaneous abortions ( Stevenson and Huntley ,1967 ). [jalananil.tripod.com]
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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]
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Excitement
Now in full color for easier referencing, this New Edition continues the tradition, incorporating a wealth of exciting updates and changes—ensuring you have access to today's authoritative knowledge to best diagnose and treat every pediatric patient you [books.google.com]
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Behavior Problem
Rarely, people with hyperlysinemia have intellectual disability or behavioral problems. It is not clear whether these problems are due to hyperlysinemia or another cause. The incidence of hyperlysinemia is unknown. [ghr.nlm.nih.gov]
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Seizure
The normotyrosinemic offspring from an untreated pregnancy was mentally retarded and had seizures. This suggests that maternal tyrosinemia II may ptoduce a fetal effect similar to that of maternal P.K.U. [jalananil.tripod.com]
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]