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Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions in the cells of the liver . It processes excess nitrogen , generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys .
Mutations in the human ASL gene causes argininosuccinic aciduria, a rare autosomal recessive disorder, and results in deficiencies of the urea cycle. Argininosuccinate lyase is an intermediate enzyme in the urea synthesis pathway and its function is imperative to the continuation of the cycle.
In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky hair syndrome, Netherton's syndrome, hypothyroidism, or trichothiodystrophy.
Signs and symptoms [ edit ] Because of the enormous number of these diseases and the numerous systems negatively impacted, nearly every "presenting complaint" to a healthcare provider may have a congenital metabolic disease as a possible cause, especially in childhood and adolescence.
Isobutyryl-coenzyme A dehydrogenase deficiency is a rare metabolic disorder in which the body is unable to process certain amino acids properly. [1]People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, resulting in a buildup of valine in the urine, a symptom called valinuria.
Organic aciduria, Organic acid disorder Organic acidemia is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism , particularly branched-chain amino acids , causing a buildup of acids which are usually not present.
2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder. [2] It causes the body to be unable to process the amino acid isoleucine properly. . Initial case reports identified individuals with developmental delay and epilepsy, however most cases identified through newborn screening have been asympt
When ammonia levels rise greater than 200 μmol/L, serious symptoms, including seizures, encephalopathy, coma, and even death, can occur. [3] Hyperammonemia with blood ammonia levels greater than 400 to 500 μmol/L is associated with 5- to 10-fold higher risk of irreversible brain damage.