Biomaterial Database

Successful liver transplantation for argininosuccinate lyase deficiency (ASLD). 2006

E Robberecht, and S Maesen, and A Jonckheere, and S Van Biervliet, and D Carton

Department of Pediatrics, University Hospital Ghent, De Pintelaan 185, Ghent, 9000, Belgium.

Liver transplantation was performed in a girl with early-onset ASLD, leading to unrestricted protein intake and no further neurological deterioration.

UI	MeSH Term	Description	Entries
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000592	Amino Acid Metabolism, Inborn Errors	Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.	Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy
D016031	Liver Transplantation	The transference of a part of or an entire liver from one human or animal to another.	Grafting, Liver,Hepatic Transplantation,Liver Transplant,Transplantation, Hepatic,Transplantation, Liver,Hepatic Transplantations,Liver Grafting,Liver Transplantations,Liver Transplants,Transplant, Liver
D016896	Treatment Outcome	Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.	Rehabilitation Outcome,Treatment Effectiveness,Clinical Effectiveness,Clinical Efficacy,Patient-Relevant Outcome,Treatment Efficacy,Effectiveness, Clinical,Effectiveness, Treatment,Efficacy, Clinical,Efficacy, Treatment,Outcome, Patient-Relevant,Outcome, Rehabilitation,Outcome, Treatment,Outcomes, Patient-Relevant,Patient Relevant Outcome,Patient-Relevant Outcomes
D056807	Argininosuccinic Aciduria	Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.	Arginino Succinase Deficiency,ASA Deficiency,ASL Deficiency,Argininosuccinase Deficiency,Argininosuccinate Acidemia,Argininosuccinate Lyase Deficiency,Argininosuccinic Acid Lyase Deficiency,Argininosuccinic Acidemia,Argininosuccinicaciduria,Argininosuccinyl-Coa Lyase Deficiency,Arginosuccinase Deficiency,Asauria,Inborn Error of Urea Synthesis, Arginino Succinic Type,Urea Cycle Disorder, Arginino Succinase Type,ASA Deficiencies,ASL Deficiencies,Acidemia, Argininosuccinate,Acidemias, Argininosuccinate,Aciduria, Argininosuccinic,Acidurias, Argininosuccinic,Arginino Succinase Deficiencies,Argininosuccinate Acidemias,Argininosuccinate Lyase Deficiencies,Argininosuccinic Acidurias,Argininosuccinicacidurias,Deficiencies, ASA,Deficiencies, ASL,Deficiencies, Arginino Succinase,Deficiencies, Argininosuccinate Lyase,Deficiency, ASA,Deficiency, ASL,Deficiency, Arginino Succinase,Deficiency, Argininosuccinate Lyase

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