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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 .
C10.228.140.163.100.380 Hyperlysinemias .
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn .
C10.228.140.163.100.937.249 Carbamoyl-Phosphate Synthase I Deficiency Disease .
C10.228.140.163.100.937.374 Citrullinemia .
C10.228.140.163.100.937.500 Hyperargininemia .
C10.228.140.163.100.937.750 Ornithine Carbamoyltransferase Deficiency Disease .
C10.228.140.490 Epilepsy .
C10.228.140.490.493 Epileptic Syndromes .
C10.228.140.490.493.500 Landau-Kleffner Syndrome .
C10.597 Neurologic Manifestations .
C10.597.606 Neurobehavioral Manifestations .
C10.597.606.441 Lethargy .
C10.597.606.643 Intellectual Disability .
C10.597.606.643.455 Mental Retardation, X-Linked .
C10.597.606.643.455.937 Rett Syndrome .
C10.720 Neurotoxicity Syndromes .
C10.720.475 Heavy Metal Poisoning, Nervous System .
C10.720.475.400 Lead Poisoning, Nervous System .
C10.720.475.400.700 Lead Poisoning, Nervous System, Childhood .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.500 Mental Retardation, X-Linked .
C16.320.322.500.937 Rett Syndrome .
C16.320.322.828 Ornithine Carbamoyltransferase Deficiency Disease .
C16.320.400 Heredodegenerative Disorders, Nervous System .
C16.320.400.525 Mental Retardation, X-Linked .
C16.320.400.525.937 Rett Syndrome .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.100 Amino Acid Metabolism, Inborn Errors .
C16.320.565.100.544 Hyperlysinemias .
C16.320.565.100.940 Urea Cycle Disorders, Inborn .
C16.320.565.100.940.249 Carbamoyl-Phosphate Synthase I Deficiency Disease .
C16.320.565.100.940.374 Citrullinemia .
C16.320.565.100.940.500 Hyperargininemia .
C16.320.565.100.940.750 Ornithine Carbamoyltransferase Deficiency Disease .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.380 Hyperlysinemias .
C16.320.565.189.937 Urea Cycle Disorders, Inborn .
C16.320.565.189.937.249 Carbamoyl-Phosphate Synthase I Deficiency Disease .
C16.320.565.189.937.374 Citrullinemia .
C16.320.565.189.937.500 Hyperargininemia .
C16.320.565.189.937.750 Ornithine Carbamoyltransferase Deficiency Disease .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.380 Hyperlysinemias .
C18.452.132.100.937 Urea Cycle Disorders, Inborn .
C18.452.132.100.937.249 Carbamoyl-Phosphate Synthase I Deficiency Disease .
C18.452.132.100.937.374 Citrullinemia .
C18.452.132.100.937.437 Hyperargininemia .
C18.452.132.100.937.500 Ornithine Carbamoyltransferase Deficiency Disease .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.100 Amino Acid Metabolism, Inborn Errors .
C18.452.648.100.544 Hyperlysinemias .
C18.452.648.100.940 Urea Cycle Disorders, Inborn .
C18.452.648.100.940.249 Carbamoyl-Phosphate Synthase I Deficiency Disease .
C18.452.648.100.940.374 Citrullinemia .
C18.452.648.100.940.437 Hyperargininemia .
C18.452.648.100.940.500 Ornithine Carbamoyltransferase Deficiency Disease .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.380 Hyperlysinemias .
C18.452.648.189.937 Urea Cycle Disorders, Inborn .
C18.452.648.189.937.249 Carbamoyl-Phosphate Synthase I Deficiency Disease .
C18.452.648.189.937.374 Citrullinemia .
C18.452.648.189.937.437 Hyperargininemia .
C18.452.648.189.937.500 Ornithine Carbamoyltransferase Deficiency Disease .
C18.452.660 Mitochondrial Diseases .
C18.452.660.097 Carbamoyl-Phosphate Synthase I Deficiency Disease .
C23 Pathological Conditions, Signs and Symptoms .
C23.888 Signs and Symptoms .
C23.888.592 Neurologic Manifestations .
C23.888.592.604 Neurobehavioral Manifestations .
C23.888.592.604.444 Lethargy .
C25 Chemically-Induced Disorders .
C25.723 Poisoning .
C25.723.522 Heavy Metal Poisoning .
C25.723.522.750 Lead Poisoning .
C25.723.522.750.500 Lead Poisoning, Nervous System .
C25.723.522.750.500.700 Lead Poisoning, Nervous System, Childhood .
F01 Behavior and Behavior Mechanisms .
F01.700 Neurobehavioral Manifestations .
F01.700.470 Lethargy .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
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) .
1.00
5245
 
Hyperargininemia .
Deficiency Disease, Arginase .
ARG1 Deficiencies .
Arginase Deficiencies .
Arginase Deficiency Diseases .
Deficiencies, ARG1 .
Deficiencies, Arginase .
Deficiency Diseases, Arginase .
Deficiency, ARG1 .
Deficiency, Arginase .
Hyperargininemias .
Arginase Deficiency Disease .
Argininemia .
ARG1 Deficiency .
Arginase Deficiency .
A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51) .
0.42
0174
 
Hyperlysinemias .
Deficiency Disease, Alpha-Aminoadipic Semialdehyde .
Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase .
Deficiency Disease, Saccharopine Dehydrogenase .
Familial Hyperlysinemia .
Hyperlysinemia .
Hyperlysinemia, Familial .
Hyperlysinemia, Periodic .
Hyperlysinuria With Hyperammonemia .
L-Lysine:NAD-Oxido-Reductase Deficiency .
Lysine:Alpha-Ketoglutarate Reductase Deficiency .
Alpha Aminoadipic Semialdehyde Deficiency Disease .
Deficiencies, L-Lysine:NAD-Oxido-Reductase .
Deficiencies, Lysine:Alpha-Ketoglutarate Reductase .
Deficiency Disease, Alpha Aminoadipic Semialdehyde .
Deficiency Disease, Lysine Alpha Ketoglutarate Reductase .
Deficiency, L-Lysine:NAD-Oxido-Reductase .
Deficiency, Lysine:Alpha-Ketoglutarate Reductase .
Familial Hyperlysinemias .
Hyperammonemia, Hyperlysinuria With .
Hyperammonemias, Hyperlysinuria With .
Hyperlysinemias, Familial .
Hyperlysinemias, Periodic .
Hyperlysinuria With Hyperammonemias .
L Lysine:NAD Oxido Reductase Deficiency .
L-Lysine:NAD-Oxido-Reductase Deficiencies .
Lysine Alpha Ketoglutarate Reductase Deficiency Disease .
Lysine:Alpha Ketoglutarate Reductase Deficiency .
Lysine:Alpha-Ketoglutarate Reductase Deficiencies .
Periodic Hyperlysinemia .
Periodic Hyperlysinemias .
Reductase Deficiencies, Lysine:Alpha-Ketoglutarate .
Reductase Deficiency, Lysine:Alpha-Ketoglutarate .
With Hyperammonemia, Hyperlysinuria .
With Hyperammonemias, Hyperlysinuria .
Alpha-Aminoadipic Semialdehyde Deficiency Disease .
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease .
Saccharopine Dehydrogenase Deficiency Disease .
A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56) .
0.37
010
 
Ornithine Carbamoyltransferase Deficiency Disease .
Deficiency Disease, Ornithine Carbamoyltransferase .
Deficiency Disease, Ornithine Transcarbamylase .
Ornithine Carbamoyltransferase Deficiency .
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To .
Deficiencies, OTC .
Deficiencies, Ornithine Transcarbamylase .
Deficiency, OTC .
Deficiency, Ornithine Transcarbamylase .
OTC Deficiencies .
Ornithine Transcarbamylase Deficiencies .
Ornithine Transcarbamylase Deficiency Disease .
Ornithine Transcarbamylase Deficiency .
OTC Deficiency .
An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) .
0.37
1866
 
Carbamoyl-Phosphate Synthase I Deficiency Disease .
CPS I Deficiency .
Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease .
Carbamoyl Phosphate Synthase 1 Deficiency .
Carbamoyl Phosphate Synthetase I Deficiency .
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To .
Carbamoyl-Phosphate Synthase 1 Deficiency Disease .
Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) .
Carbamoyl-Phosphate Synthetase I Deficiency Disease .
Carbamoylphosphate Synthetase 1 Deficiency Disease - .
Carbamoylphosphate Synthetase I Deficiency Disease .
Carbamyl Phosphate Synthetase (CPS) Deficiency .
Carbamyl Phosphate Synthetase Deficiency Disease .
Carbamyl-Phosphate Synthetase 1 Deficiency Disease .
CPS 1 Deficiencies .
CPS I Deficiencies .
Carbamoyl Phosphate Synthase 1 Deficiency Disease .
Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) .
Carbamoyl Phosphate Synthetase I Deficiency Disease .
Carbamoylphosphate Synthetase 1 Deficiency Disease .
Carbamyl Phosphate Synthetase 1 Deficiency Disease .
Carbamyl Phosphate Synthetase I Deficiency Disease .
Carbamyl-Phosphate Synthetase I Deficiency Disease .
Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) .
CPS 1 Deficiency .
Deficiency Disease, Carbamyl Phosphate Synthetase .
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency .
A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1) .
0.35
059
 
Rett Syndrome .
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use .
Rett Disorder .
Rett's Disorder .
Rett's Syndrome .
Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome .
Cerebroatrophic Hyperammonemias .
Hyperammonemia, Cerebroatrophic .
Hyperammonemias, Cerebroatrophic .
Retts Syndrome .
Syndrome, Rett .
Syndrome, Rett's .
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome .
Cerebroatrophic Hyperammonemia .
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199) .
0.32
 
Lethargy .
A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION. .
0.31
2292
 
Lead Poisoning, Nervous System, Childhood .
Saturine Encephalopathy, Childhood .
Childhood Lead Encephalopathy .
Childhood Neurologic Saturnism .
Childhood Saturine Encephalopathy .
Encephalopathy, Childhood Lead .
Encephalopathy, Childhood Saturine .
Lead Induced Nervous System Disease, Childhood .
Saturnism, Childhood Neurologic .
Lead Encephalopathy, Childhood .
Lead Poisoning, Neurologic, Childhood .
Lead-Induced Nervous System Disease, Childhood .
Nervous System Disease, Lead-Induced, Childhood .
Nervous System Poisoning, Lead, Childhood .
Neurologic Saturnism, Childhood .
Neurotoxicity Syndrome, Lead, Childhood .
Plumbism, Neurologic, Childhood .
Poisoning, Lead, Nervous System, Childhood .
Poisoning, Lead, Neurologic, Childhood .
Neurologic disorders occurring in children following lead exposure. The most frequent manifestation of childhood lead toxicity is an encephalopathy associated with chronic ingestion of lead that usually presents between the ages of 1 and 3 years. Clinical manifestations include behavioral changes followed by lethargy; CONVULSIONS; HALLUCINATIONS; DELIRIUM; ATAXIA; and vomiting. Elevated intracranial pressure (HYPERTENSION, INTRACRANIAL) and CEREBRAL EDEMA may occur. (From Adams et al., Principles of Neurology, 6th ed, p1210-2) .
0.31
26180
 
Landau-Kleffner Syndrome .
Acquired Aphasia with Convulsive Disorder .
Acquired Epileptiform Aphasia .
Aphasia, Acquired, With Convulsive Disorder .
Aphasia, Epileptic, Acquired .
Landau-Kleffner Acquired Epileptiform Aphasia .
Acquired Epileptic Aphasia .
Acquired Epileptic Aphasias .
Acquired Epileptiform Aphasias .
Epileptic Aphasia, Acquired .
Epileptic Aphasias, Acquired .
Epileptiform Aphasia, Acquired .
Epileptiform Aphasias, Acquired .
Landau Kleffner Acquired Epileptiform Aphasia .
Landau Kleffner Syndrome .
Syndrome, Landau-Kleffner .
Aphasia, Acquired Epileptic .
Acquired Childhoood Aphasia with Convulsive Disorder .
APHASIA, EPILEPTIC, ACQUIRED .
A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495). .
0.30
13262