Patients with citrullinemia, caused by a deficiency of AS , or argininosuccinic aciduria, caused by a deficiency of AL , will manifest marked increases of blood citrulline and argininosuccinate, respectively. (nih.gov)
The presence of hyperammonemia, hyperglutaminemia, hyperalaninemia and orotic aciduria in a critically ill infant affords strong presumptive evidence for OTC deficiency. (nih.gov)
Ornithine carbamoyltransferase deficiency is a long-term debilitating and life-threatening disease that leads to mental retardation and is associated with poor overall survival. (europa.eu)
Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydoxybutyric aciduria or gamma-hydoxybutyric aciduria , is a rare autosomal recessive disorder [1] of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid , or GABA . (wikidoc.org)
Delayed development and mental retardation are among the long-term consequences in survivors who do not receive proper treatment. (medscape.com)
Mental retardation is a common sequela. (medscape.com)
A CT of the brain and an EEG may aid in diagnosis if mental retardation is present. (medscape.com)
As to precision and recall (e.g., "lack of vision" vs. "blindness", or "developmental delay" vs. "mental retardation"), OMIM clearly suffers from lack of standardized, hierarchically structured terminology and could benefit from collaborating with existing endeavors, for example the Unified Healthcare Language System, Systematized Nomenclature of Medicine Clinical Terms, or Human Phenotype Ontology. (adenosine-kinase.com)
The most constant features seen are developmental delay, hypotonia , and mental retardation. (wikidoc.org)
Developmental delay1
Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting with "sparse" or "brittle" hair, developmental delay, and tremors. (wikipedia.org)
Inherited disorder1
Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. (wikipedia.org)
Ammonia1
Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver. (wikipedia.org)
Coma1
An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma. (wikipedia.org)
Urea2
Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. (wikipedia.org)
Of 5 of your relevant recessive urea cycle and also other relevant problems, only ASL (argininosuccinic aciduria) and PCCA (propionic aciduria) mapped to the ROHs, but these diagnostic possibilities had been ruled out by biochemical studies. (adenosine-kinase.com)
Status2
The Longitudinal Study (LS, 5101) is essential to the overall goals of the UCDC and is the basis of its research mission to address questions of pathophysiology and morbidity/mortality, as well as other outcomes of UCD including growth and development, metabolic status, nutritional status, cognitive function, treatment effects, pregnancy outcomes of affected mothers and their children, late effects and co-morbidities, and quality of life/mental health status. (rarediseasesnetwork.org)
Repeated neurologic crises may involve mental status change, abdominal pain, peripheral neuropathy, and/or respiratory failure. (medicalhomeportal.org)
Infant with Argininosuccinic aciduria2
An infant with Argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. (nih.gov)
An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma. (wikipedia.org)
Ammonia4
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. (nih.gov)
Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting with "sparse" or "brittle" hair, developmental delay, and tremors. (wikipedia.org)
Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver. (wikipedia.org)
Of 5 of your relevant recessive urea cycle and also other relevant problems, only ASL (argininosuccinic aciduria) and PCCA (propionic aciduria) mapped to the ROHs, but these diagnostic possibilities had been ruled out by biochemical studies. (adenosine-kinase.com)
Acid3
Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. (wikipedia.org)
All patients showed elevated concentrations of argininosuccinic acid and its anhydrides in all body fluids, most pronounced in cerebrospinal fluid (CSF). (nih.gov)
C2950 Chromosome Abnormality C99147 Neonatal Research Network Terminology C98683 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconic Aciduria Type 1 3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. (nih.gov)
Inborn Error of Metabolism C99147 Neonatal Research Network Terminology C84585 Barth Syndrome 3-Methylglutaconic Aciduria Type 2 A rare X-linked syndrome caused by mutations in TAZ1 gene. (nih.gov)
Down syndrome (trisomy 21) is the most common form of inherited ID followed by fragile X syndrome, caused by an abnormal expansion mutation of a CGG triplet repeat in the fragile X mental retardation 1 (FRM1) gene. (basicmedicalkey.com)
Seizures1
[3] Untreated, PKU can lead to intellectual disability , seizures , behavioral problems, and mental disorders . (mdwiki.org)
A CT of the brain and an EEG may aid in diagnosis if mental retardation is present. (medscape.com)
Disorders1
Untreated metabolic disorders may result in liver disease, physical disability, mental retardation, and even sudden death. (medscape.com)
Problems1
If untreated, this may cause vomiting, weight loss, kidney and pancreas problems and mental disabilities. (perinatalservicesbc.ca)
Syndrome1
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. (nih.gov)