Hyperammonemia

Results: 64



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11Biology / Nitrogen metabolism / Urea cycle disorder / Hyperammonemia / Argininosuccinate synthase / Amino acid / Medical genetics / Citrulline / Arginine / Chemistry / Urea cycle / Metabolism

Citrullinemia (CIT) (metabolic condition: amino acid disorder) Also known as: • citrullinuria

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Source URL: www.albertahealthservices.ca

Language: English - Date: 2013-09-16 18:05:06
12Medical genetics / Newborn screening / Hyperammonemia / 3-Methylcrotonyl-CoA carboxylase deficiency / Isovaleric acidemia / Glutaric acidemia type 2 / Glutaric aciduria type 1 / Propionic acidemia / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Genetic genealogy

Maine Newborn Screening Program List of Conditions Each baby born in Maine is screened for the conditions listed below. This list is correct as of July 1, 2008 but may change as conditions are added to or removed from th

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Source URL: www.maine.gov

Language: English - Date: 2011-11-10 05:38:14
13Argininosuccinic aciduria / Hyperammonemia / Organic acidemia / Carnitine / Medical genetics / Medicine / Health / Rare diseases

Diagnosis: Argininosuccinic Aciduria or Arginosuccinic Lyase Deficiency (ASA) ASA is an inherited disorder that limits the body’s ability to convert ammonia to urea. During periods of illness, fasting or protein overlo

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Source URL: www.wadsworth.org

Language: English - Date: 2009-07-15 13:48:21
14Health / Hyperammonemia / Arginase / Argininemia / Carnitine / Arginine / Medical genetics / Medicine / Chemistry / Urea cycle

Diagnosis: Argininemia or Arginase Deficiency (ARG) Diagnosis: Argininemia or Arginase Deficiency (ARG) In an emergency, call the Metabolic Specialist immediately.

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Source URL: www.wadsworth.org

Language: English - Date: 2009-07-15 13:48:22
15Biology / Urea cycle disorder / Argininosuccinate synthase / Ornithine transcarbamylase deficiency / Argininemia / Urea / Amino acid / Hyperammonemia / Arginine / Urea cycle / Metabolism / Chemistry

UREA CYCLE DISORDER GLOSSARY © National Urea Cycle Disorders Foundation 2013 A Allele: One of a pair of genes, situated on the same site on paired chromosomes, containing specific inheritable characteristics.

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Source URL: www.nucdf.org

Language: English - Date: 2013-06-25 20:36:12
16Chemistry / Rare diseases / Carnitine-acylcarnitine translocase deficiency / Translocase / Carnitine / Hyperammonemia / Ketotic hypoglycemia / Hypoglycemia / Carnitine palmitoyltransferase II deficiency / Health / Medicine / Solute carrier family

Disease Name CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (CACT) (SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER 20; CARNITINE-ACYLCARNITINE CARRIER; CACT DEFICIENCY) Fatty acid oxidation defect

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Source URL: www.idph.state.ia.us

Language: English - Date: 2007-06-25 16:35:55
17Argininemia / Hyperammonemia / Biochemistry / Ornithine / Urea cycle / Biology / Arginase

ARGINASE DEFICIENCY (ARG) REFERENCES (ARGINASE DEFICIENCY; HYPERARGININEMIA[removed].

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Source URL: www.idph.state.ia.us

Language: English - Date: 2007-06-25 16:35:48
18Biology / Urea cycle / Citrullinemia / Argininosuccinate synthase / Urea cycle disorder / Cholestasis / Jaundice / Hyperammonemia / Citrin / Medicine / Health / Hepatology

Microsoft Word - ass_type2

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Source URL: www.idph.state.ia.us

Language: English - Date: 2007-06-25 16:35:50
19Medicine / Epidemiology / Newborn screening / Pediatrics / 3-hydroxybutyryl-CoA dehydrogenase / Carnitine / Organic acidemia / Hyperammonemia / Butyryl-CoA dehydrogenase / Chemistry / Health / EC 1.1.1

Disease Name 2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (MHBD) (HYDROXYL-CoA DEHYDROGENASE DEFICIENCY; 3-HYDROXY-2METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY) Organic aciduria Classification: Inheritance:

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Source URL: www.idph.state.ia.us

Language: English - Date: 2007-06-25 16:36:49
20Biology / Citrullinemia / Argininosuccinate synthase / Urea cycle disorder / Hyperammonemia / Argininosuccinic acid / Arginine / Newborn screening / Citrulline / Urea cycle / Metabolism / Chemistry

Disease Name CLASSIC CITRULLINEMIA (ASS) (CITRULLINEMIA, TYPE I; CTLN1; ARGININOSUCCINATE SYNTHETASE DEFICIENCY; ASS DEFICIENCY) Urea cycle defect Classification:

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Source URL: www.idph.state.ia.us

Language: English - Date: 2007-06-25 16:35:49
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