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 DeCS Categories

C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn .
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn .
C10.228.140.163.100.937.374 Citrullinemia .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.100 Amino Acid Metabolism, Inborn Errors .
C16.320.565.100.940 Urea Cycle Disorders, Inborn .
C16.320.565.100.940.374 Citrullinemia .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.937 Urea Cycle Disorders, Inborn .
C16.320.565.189.937.374 Citrullinemia .
C16.320.565.398 Lipid Metabolism, Inborn Errors .
C16.320.565.398.465 Hyperlipoproteinemia Type I .
C16.320.565.398.500 Hypolipoproteinemias .
C16.320.565.398.500.330 Hypoalphalipoproteinemias .
C16.320.565.398.500.330.500 Lecithin Cholesterol Acyltransferase Deficiency .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.937 Urea Cycle Disorders, Inborn .
C18.452.132.100.937.374 Citrullinemia .
C18.452.584 Lipid Metabolism Disorders .
C18.452.584.500 Dyslipidemias .
C18.452.584.500.500 Hyperlipidemias .
C18.452.584.500.500.644 Hyperlipoproteinemias .
C18.452.584.500.500.644.237 Hyperlipoproteinemia Type I .
C18.452.584.500.875 Hypolipoproteinemias .
C18.452.584.500.875.330 Hypoalphalipoproteinemias .
C18.452.584.500.875.330.500 Lecithin Cholesterol Acyltransferase Deficiency .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.100 Amino Acid Metabolism, Inborn Errors .
C18.452.648.100.940 Urea Cycle Disorders, Inborn .
C18.452.648.100.940.374 Citrullinemia .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.937 Urea Cycle Disorders, Inborn .
C18.452.648.189.937.374 Citrullinemia .
C18.452.648.398 Lipid Metabolism, Inborn Errors .
C18.452.648.398.465 Hyperlipoproteinemia Type I .
C18.452.648.398.500 Hypolipoproteinemias .
C18.452.648.398.500.330 Hypoalphalipoproteinemias .
C18.452.648.398.500.330.500 Lecithin Cholesterol Acyltransferase Deficiency .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Lecithin Cholesterol Acyltransferase Deficiency .
Dyslipoproteinemic Corneal Dystrophy .
Fish-Eye Disease .
LCAT Deficiency .
LCATA Deficiency .
Lecithin:Cholesterol Acyltransferase Deficiency .
Norum Disease .
alpha-LCAT Deficiency .
alpha-Lecithin-Cholesterol Acyltransferase Deficiency .
alpha-Lecithin:Cholesterol Acyltransferase Deficiency .
Acyltransferase Deficiency, Lecithin:Cholesterol .
Corneal Dystrophy, Dyslipoproteinemic .
Deficiency, LCAT .
Deficiency, alpha-LCAT .
Fish Eye Disease .
LCATA Deficiencies .
alpha LCAT Deficiency .
Lecithin Acyltransferase Deficiency .
An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure. .
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/deficiency .
Used with endogenous and exogenous substances which are absent or in diminished amount relative to the normal requirement of an organism or a biologic system. .
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Hyperlipoproteinemia Type I .
Burger-Grutz Syndrome .
C-II Anapolipoproteinemia .
Chylomicronemia, Familial .
Familial Fat-Induced Hypertriglyceridemia .
Familial Hyperchylomicronemia .
Familial Hyperlipoproteinemia Type 1 .
Familial LPL Deficiency .
Familial Lipoprotein Lipase Deficiency .
Hyperlipemia, Essential Familial .
Hyperlipemia, Idiopathic, Burger-Grutz Type .
Hyperlipoproteinemia Type Ia .
Hyperlipoproteinemia Type Ib .
Hyperlipoproteinemia, Type I .
Hyperlipoproteinemia, Type Ia .
Hyperlipoproteinemia, Type Ib .
LIPD Deficiency .
Lipase D Deficiency .
Lipoprotein Lipase Deficiency .
Anapolipoproteinemia, C-II .
Anapolipoproteinemias, C-II .
Apolipoprotein C II Deficiency .
Apolipoprotein C-II Deficiencies .
Burger Grutz Syndrome .
Burger-Grutz Syndromes .
C-II Anapolipoproteinemias .
Chylomicronemias, Familial .
Deficiencies, Apolipoprotein C-II .
Deficiencies, Familial LPL .
Deficiencies, LIPD .
Deficiencies, Lipase D .
Deficiencies, Lipoprotein Lipase .
Deficiency, Apolipoprotein C-II .
Deficiency, Familial LPL .
Deficiency, LIPD .
Deficiency, Lipase D .
Deficiency, Lipoprotein Lipase .
Essential Familial Hyperlipemia .
Essential Familial Hyperlipemias .
Familial Chylomicronemia .
Familial Chylomicronemias .
Familial Fat Induced Hypertriglyceridemia .
Familial Fat-Induced Hypertriglyceridemias .
Familial Hyperchylomicronemias .
Familial Hyperlipemia, Essential .
Familial Hyperlipemias, Essential .
Familial LPL Deficiencies .
Fat-Induced Hypertriglyceridemia, Familial .
Fat-Induced Hypertriglyceridemias, Familial .
Hyperchylomicronemias, Familial .
Hyperlipemias, Essential Familial .
Hyperlipoproteinemia Type Ias .
Hyperlipoproteinemia Type Ibs .
Hyperlipoproteinemia Type Is .
Hyperlipoproteinemias, Type I .
Hyperlipoproteinemias, Type Ia .
Hyperlipoproteinemias, Type Ib .
Hypertriglyceridemia, Familial Fat-Induced .
Hypertriglyceridemias, Familial Fat-Induced .
LIPD Deficiencies .
LPL Deficiencies, Familial .
LPL Deficiency, Familial .
Lipase D Deficiencies .
Lipase Deficiencies, Lipoprotein .
Lipoprotein Lipase Deficiencies .
Syndrome, Burger-Grutz .
Syndromes, Burger-Grutz .
Type I Hyperlipoproteinemia .
Type I Hyperlipoproteinemias .
Type Ia Hyperlipoproteinemia .
Type Ia Hyperlipoproteinemias .
Type Ib Hyperlipoproteinemia .
Type Ib Hyperlipoproteinemias .
Apolipoprotein C-II Deficiency .
Hyperchylomicronemia, Familial .
Lipoprotein Lipase Deficiency, Familial .
An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing. .
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Citrullinemia .
Argininosuccinic Acid Synthase Deficiency Disease .
Argininosuccinic Acid Synthetase Deficiency Disease .
Argininosuccinic Acid Synthetase Deficiency Disease, Partial .
Argininosuccinic Acid Synthetase Deficiency, Complete .
Citrullinemia, Classical .
Citrullinemia, Late-Onset .
Citrullinemia, Neonatal .
Citrullinemia, Type I .
Citrullinuria .
Complete Argininosuccinic Acid Synthetase Deficiency Disease .
Deficiency, Argininosuccinic Acid Synthetase, Complete .
Deficiency, Argininosuccinic Acid Synthetase, Partial .
Partial Argininosuccinic Acid Synthetase Deficiency Disease .
ASS Deficiencies .
Argininosuccinate Synthetase Deficiencies .
Citrullinemia, Late Onset .
Citrullinemias .
Citrullinemias, Classic .
Citrullinemias, Classical .
Citrullinemias, Late-Onset .
Citrullinemias, Neonatal .
Citrullinurias .
Classic Citrullinemia .
Classic Citrullinemias .
Classical Citrullinemia .
Classical Citrullinemias .
Deficiencies, ASS .
Deficiencies, Argininosuccinate Synthetase .
Deficiency, ASS .
Deficiency, Argininosuccinate Synthetase .
Late-Onset Citrullinemia .
Late-Onset Citrullinemias .
Neonatal Citrullinemia .
Neonatal Citrullinemias .
Type 1, Citrullinemia .
Argininosuccinate Synthase Deficiency Disease .
Argininosuccinate Synthetase Deficiency .
Argininosuccinic Acid Synthetase Deficiency .
ASS Deficiency .
Citrullinemia 1 .
Citrullinemia Type 1 .
Citrullinemia, Classic .
Deficiency Disease, Argininosuccinate Synthase .
Deficiency Disease, Argininosuccinic Acid Synthase .
A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49) .
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