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. . 1.00
/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. . 0.62
alpha-Mannosidosis. Alpha-D-Mannosidosis . Alpha-Mannosidase B Deficiency . Alpha-Mannosidosis, Type I . Lysosomal Alpha B Mannosidosis . Lysosomal alpha-D-Mannosidase Deficiency . Mannosidosis, alpha B Lysosomal . alpha Mannosidase B Deficiency . alpha-Mannosidase Deficiency . Deficiencies, Lysosomal alpha-D-Mannosidase . Deficiencies, alpha-Mannosidase . Deficiency, Lysosomal alpha-D-Mannosidase . Deficiency, alpha-Mannosidase . Lysosomal alpha D Mannosidase Deficiency . Lysosomal alpha-D-Mannosidase Deficiencies . alpha Mannosidase Deficiency . alpha Mannosidosis . alpha-D-Mannosidase Deficiencies, Lysosomal . alpha-D-Mannosidase Deficiency, Lysosomal . alpha-Mannosidase Deficiencies . alpha-Mannosidoses . Mannosidosis, alpha B, Lysosomal . An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. . 0.59
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) . 0.58
