Autosomal recessive disorder of the urea. Medical search. Frequent questions

Deficiency in N-acetylglutamate synthase or a genetic mutation in the gene coding for the enzyme will lead to urea cycle failure in which ammonia is not converted to urea, but rather accumulated in blood leading to the condition called type I hyperammonemia. (wikipedia.org)
mitochondrial dysfunction, whether genetically or pharmacologically induced, may impair urea production and result in hyperammonemia. (medscape.com)
Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. (nih.gov)
The multiple primary causes of hyperammonemia, specifically the urea cycle enzyme deficiencies, vary in manifestation, diagnostic features, and management. (medscape.com)
Urea cycle defects with resulting hyperammonemia are due to deficiencies of the enzymes involved in waste nitrogen metabolism. (medscape.com)
N-Acetylglutamate synthase (NAGS) deficiency is an extremely rare autosomal recessive metabolic disorder affecting the urea cycle, leading to episodes of hyperammonemia which can cause significant morbidity and mortality. (nih.gov)
Urea cycle disorders are characterized by hyperammonemia under catabolic or protein-loading conditions. (msdmanuals.com)
Arginase deficiency is an autosomal recessive disorder of the urea cycle in which a defect in conversion of arginine to urea and ornithine leads to hyperammonemia. (balkanmedicaljournal.org)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) is a very rare disorder. (babysfirsttest.org)

N-Acetylglutamate synthase deficiency is an autosomal recessive urea cycle disorder. (wikipedia.org)
ASA lyase deficiency is an autosomal recessive genetic disorder. (medscape.com)
Ornithine translocase deficiency is an inherited disorder that causes ammonia and other substances to build up (accumulate) in the blood. (medlineplus.gov)
Ornithine translocase deficiency is a very rare disorder. (medlineplus.gov)
For all individuals with OTC deficiency, typical neuropsychological complications include developmental delay, learning disabilities, intellectual disability, attention-deficit/hyperactivity disorder, and executive function deficits. (beds.ac.uk)
Primary urea cycle disorders (UCDs) include carbamoyl phosphate synthase (CPS) deficiency, ornithine transcarbamylase (OTC) deficiency, argininosuccinate synthetase deficiency (citrullinemia), argininosuccinate lyase deficiency (argininosuccinic aciduria), arginase deficiency (argininemia), and N -acetylglutamate synthetase (NAGS) deficiency. (msdmanuals.com)
Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. (antibodypedia.com)
Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. (medlineplus.gov)
Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. (medlineplus.gov)
Hypoglycemia associated with elevated insulin levels makes certain disorders unlikely, such as defects in gluconeogenesis, free fatty acid synthesis and ketogenesis, growth hormone deficiency, and cortisol deficiency. (medscape.com)
this results in failure to activate the enzyme responsible for the reaction NH 4 + + CO 2 + ATP → H 2 N-CO-PO 3 2- + ADP, which is the entry step into the urea cycle (see Carbamyl Phosphate Synthetase Deficiency ). (medscape.com)
Clinical signs and symptoms of NAGS deficiency occur when ammonia fails to fix into carbamoyl phosphate (CP) effectively, thus disabling the urea cycle. (medscape.com)
Phenylketonuria (PKU), a congenital metabolic disease [ 1 ], is caused by phenylalanine metabolism disorder resulting from phenylalanine hydroxylase deficiency in the liver due to chromosomal gene mutation, which often leads to central nervous system damage [ 2 , 3 ]. (hindawi.com)
PKU is a treatable autosomal recessive inherited metabolic disease and is categorized as per the different etiologies into PKU caused by mutations in the PAH gene resulting in decreased or loss of PAH activity and BH4D deficiency caused by a congenital defect of an enzyme in the synthesis or metabolism pathway of the coenzyme of PAH (BH4) [ 8 , 9 ]. (hindawi.com)
He is the sixth and youngest child to se deficiency (MIM 231670) is a recessive- first-cousin phenotypically normal parents ly inherited neurometabolic disorder asso- and has 5 healthy sisters. (who.int)
GA-1 is an autosomal recessive disorder caused by deficiency of glutaryl-CoA dehydrogenase, a mitochon- drial enzyme involved in the metabolism of lysine, hydroxylysine and tryptophan. (who.int)
N-acetylglutamate synthetase (NAGS) deficiency is an uncommon genetic disorder characterized by full or partial absence of the enzyme N-acetylglutamate synthetase (NAGS). (valleyfamilymedicineurgentcarecenter.com)
NAGS deficiency is inherited as an autosomal recessive quality. (valleyfamilymedicineurgentcarecenter.com)
These metabolic disorders are typically caused by genetic mutations that result in the impairment or deficiency of enzymes involved in the metabolism of β-alanine or related pathways. (healthmatters.io)
Carnitine palmitoyltransferase (CPT) deficiency is a group of disorders caused by defects in the enzymes CPT I or II. (siderac.com)
Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. (siderac.com)
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder of fatty acid oxidation, the process by which the body breaks down fatty acids from food for energy. (siderac.com)
Carnitine palmitoyl transferase II deficiency, myopathic form Disease definition The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term). (siderac.com)

The urea pattern disorders are a team of unusual conditions affecting the urea cycle, a collection of biochemical procedures where nitrogen is converted right into urea as well as removed from the physical body with the pee. (valleyfamilymedicineurgentcarecenter.com)

However, because null alleles are rare (and often occur de novo in the proband) and RBM8A hypomorphic alleles are common, inheritance of TAR syndrome is associated with several features unusual in autosomal recessive disorders: a paucity of affected sibs, apparent parent-to-child transmission, and affected second- and third-degree relatives. (nih.gov)
The mode of inheritance is usually autosomal recessive but can also be X-linked. (geneticpassport.org)
The gene mutation types of the 4 patients were P87S/D96N, N52S/G144R, D96N/P87S, and P87S/P87S, all of which were from their parents, which conformed to the law of autosomal recessive inheritance. (hindawi.com)
Autosomal recessive congenital ichthyosis (ARCI) is a recently adopted term referring to a heterogeneous group of disorders that share an autosomal recessive pattern of inheritance, collodion membrane presentation at birth and overlap in causative gene mutations. (firstskinfoundation.org)
Mutations in lamellar ichthyosis usually (but not always) are transmitted through autosomal recessive inheritance. (firstskinfoundation.org)
D-Fructose + D-Glucose Classical Galactosemia on Diet Autosomal Recessive Inheritance Galactosemia Variants Gal-1-P-UDT GalKinase Epimerase 9p13 - p21 17q21-q22 1p32 - pter Duarte Los Angeles Indian Rennes Philadelphia Negro Chicago A 2-day-old female infant is refusing to feed and has become increasingly lethargic and hypotonic over the past 2 hours. (abcdocz.com)

Genetic changes (mutations) disrupt this barrier and lead to the characteristic signs of the disorder. (skincarehealthcenter.com)
Mutations in PEX7 on 6q23.3 results a peroxisome disorder and leukodystrophy that affects growth of the myelin. (mhmedical.com)
This is a rare autosomal recessive disorder caused by mutations in the BCKDHA gene, which encodes the alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex. (healthmatters.io)

The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. (nih.gov)
Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. (medlineplus.gov)
As an autosomal recessive monogenic disease, MSUD represents an ideal target for liver-directed gene therapy since clinical OLT data suggests that incomplete restoration of liver BCKD enzyme activity (representing 9-13% of body BCKD activity 10 ) is fully therapeutic. (nature.com)
Most metabolic disorders are inherited from one or both parents who carry a defective gene that regulates a particular protein in a class of the body's cells. (newworldencyclopedia.org)
The disorder is due to a problem in the gene ABCA12. (skincarehealthcenter.com)
Sickle cell anemia (HbSS) refers to patients who are homozygous for the HbS gene, while heterozygous forms may pair HbS with genes coding for other types of abnormal hemoglobin such as hemoglobin C, an autosomal recessive mutation which substitutes lysine for glutamic acid. (iprojectmaterials.com)
People inherit the condition in an autosomal recessive pattern, meaning an affected person must have received a defective copy of the gene from both parents. (siderac.com)
Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)
Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)
Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)

The total soluble ammonia level in a healthy adult with 5 L of circulating blood is only 150 mcg, in contrast to approximately 1000 mg of urea nitrogen present. (medscape.com)
The urea cycle is completed in the liver, where urea is generated from free ammonia. (medscape.com)
The biologic requirement for tight regulation is satisfied because the capacity of the hepatic urea cycle exceeds the normal rates of ammonia generation in the periphery and transfer into the blood. (medscape.com)
Increased entry of ammonia to the brain is a primary cause of neurologic disorders, such as congenital deficiencies of urea cycle enzymes, hepatic encephalopathies, Reye syndrome, several other metabolic disorders, and some toxic encephalopathies. (medscape.com)
Reference serum levels are less than 35 µmol/L. Excess ammonia is excreted as urea, which is synthesized in the liver through the urea cycle. (medscape.com)
Sources of ammonia include bacterial hydrolysis of urea and other nitrogenous compounds in the intestine, the purine-nucleotide cycle and amino acid transamination in skeletal muscle, and other metabolic processes in the kidneys and liver. (medscape.com)
This causes, nitrogen to accumulate in the bloodstream in the form of toxic ammonia instead of being converted to less toxic urea and being excreted. (medlineplus.gov)
The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. (antibodypedia.com)
As a result, urea cannot be produced normally, and excess nitrogen accumulates in the blood in the form of ammonia. (medlineplus.gov)

Urea cycle disorders are the congenital error of nitrogen detoxification/arginine synthesis due to defects in the urea cycle enzymes such as carbamoylphosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), argininosuccinate synthetase (ASS), argininosuccinate lyase (ASL) and arginase 1 (ARG1), leading to respective deficiencies (abbreviated CPS1D, OTCD, ASSD, ASLD and ARG1D). (rhodeislandchronicle.com)
Ichthyosis fetalis is autosomal recessive congenital disorder that affects the outer layers of the skin. (skincarehealthcenter.com)
Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. (alliedacademies.org)
The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases. (cdc.gov)

the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys. (affbiotech.com)
Given the number of metabolic disorders and the range of systems affected, these disorders are manifested in a wide array of symptoms of varying severity, ranging from recurrent vomiting, lethargy, and muscle weakness, to liver and heart failure, developmental delay, and mental retardation. (newworldencyclopedia.org)
Disorders that result from defective glycogenolysis in the liver lead to hypoglycemia within a few hours of fasting. (medscape.com)

The hepatic urea cycle (see the image below) is the major route for disposal of waste nitrogen chiefly generated from protein and amino acid metabolism. (medscape.com)
Most common reason for referral was metabolic encephalopathy, followed by global developmental delay and seizure disorder with less common being hypoglycemia, hepatic failure etc. (alliedacademies.org)

Other: A distinguishing feature in the newborn period, unique to urea cycle defects, is the presence of trichorrhexis nodosa (friable hair). (medscape.com)
Disorders in the metabolism of pyrimidine are mostly caused by enzyme defects (highlighted in pink, one disease is depicted in orange, since there appears to be no clinical difference between type 2 and 1 of orotic aciduria, therefore researchers believe that type 2 does not exist officially). (tempsite.ws)

Figure 17.1 illustrates the metabolic processes involved in the overall metabolism of carbohydrates, fats and protein including the catabolic processes to produce energy and urea (the product of the detoxification of the nitrogen moiety of amino acids) and anabolic processes to form tissue protein and energy stores, glycogen and lipids. (oncohemakey.com)
The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). (beds.ac.uk)
Overview of Amino Acid and Organic Acid Metabolism Disorders The kidneys actively reabsorb significant amounts of amino acids. (msdmanuals.com)
Approach to the Patient With a Suspected Inherited Disorder of Metabolism Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. (msdmanuals.com)
Initial testing Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. (msdmanuals.com)
Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. (medlineplus.gov)
Disorders of fat metabolism result in the unavailability of free fatty acids and ketones as alternative fuels. (medscape.com)
PKU is caused by the defect of phenylalanine hydroxylase activity in children, which causes phenylalanine metabolism disorder, and tetrahydrobiopterin intervention therapy can affect the activity of phenylalanine hydroxylase, increase the decline rate of blood Phe, significantly reduce the level of phenylalanine in children, and promote intellectual recovery. (hindawi.com)
Overview of Purine and Pyrimidine Metabolism Disorders. (tempsite.ws)
There are several disorders of pyrimidine metabolism (see the table). (tempsite.ws)
Disorders of Pyrimidine Metabolism Disorder Defective Enzyme Comments. (tempsite.ws)
Disorders that involve abnormalities of nucleotide metabolism range from relatively common diseases such as hyperuricemia and gout, in which there is increased production or impaired excretion of a metabolic end product of purine metabolism (uric acid), to rare enzyme deficiencies that affect purine and pyrimidine synthesis or degradation. (tempsite.ws)
Disorders of Purine and Pyrimidine Metabolism Rebecca S. Wappner PURINE AND PYRIMIDINE METABOLISM Purine and pyrimidine nucleotides are important constituents of RNA, DNA, nucleotide sugars, and other high-energy compounds and of cofactors such as adenosine triphosphate and nicotinamide-adenine dinucleotide. (tempsite.ws)
Background: Clinical presentation and disease severity in disorders of purine and pyrimidine metabolism vary considerably. (tempsite.ws)
Parviz M, Vogel K, Gibson KM, Pearl PL. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. (healthmatters.io)

Metabolic disorders typically result when an enzyme necessary for some step in a metabolic process is missing or improperly constructed due to a genetic defect. (newworldencyclopedia.org)
The MOST likely explanation for these findings is A. B. C. D. E. aminoacidopathy ethylene glycol poisoning metoclopramide toxicity organic acidemia urea cycle defect A previously healthy 2-year-old boy is brought to the emergency department by his mother, who reports that he has had a cold and fever for the past 2 days. (abcdocz.com)

Two moles of waste nitrogen are eliminated with each mole of urea excreted. (medscape.com)
The urea cycle breaks down excess nitrogen, made when protein is broken down by the body, to make a compound called urea that is excreted by the kidneys in urine. (medlineplus.gov)
Serum electrolytes, blood urea nitrogen, and creatinine to assess kidney function per nephrologist. (nih.gov)
This enzyme controls the final step of the urea cycle, which produces urea by removing nitrogen from arginine. (medlineplus.gov)
NAGS is among 6 enzymes that contribute in the break down and removal of nitrogen from the physical body, a process known as the urea cycle. (valleyfamilymedicineurgentcarecenter.com)

Arginase catalyzes the hydrolysis of arginine to ornithine and urea. (nih.gov)

The most striking clinical findings of each individual urea cycle disorder consequently relate to the foregoing constellation of symptoms and their temporal sequence. (medscape.com)
According to Van Leung-Pineda (2019), the prevalence of Urea Cycle Disorders s in the US is approximated to be 1 in 35,000, with two-thirds having symptoms in the neonatal period. (rhodeislandchronicle.com)
Metabolic disorders are highly diverse groups of conditions with variable severity of symptoms, commonly neurological impairment, organomegaly, and mental retardation are involved. (geneticpassport.org)
Even within the same disorder, symptoms may vary, depending on the age of onset and other factors. (newworldencyclopedia.org)

These enzyme deficiencies lead to disorders with nearly identical clinical presentations. (medscape.com)
Endo F, Matsuura T, Yanagita K, Matsuda I. Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood. (medlineplus.gov)
Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population. (cdc.gov)
Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing. (cdc.gov)

Carbamoyl phosphate synthase I is an enzyme found in mitochondrial matrix and it catalyzes the very first reaction of the urea cycle, in which carbamoyl phosphate is produced. (wikipedia.org)

Although decreased citrulline is used as a newborn screening (NBS) marker to identify proximal urea cycle disorders (UCDs), it is also a feature of some mitochondrial diseases, including MT-ATP6 mitochondrial disease. (stanford.edu)

Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. (pinnacleclinic.com)
Treatment of urea cycle disorders is dietary protein restriction that still provides adequate amino acids for growth, development, and normal protein turnover. (msdmanuals.com)
Maple syrup urine disease (MSUD) is a rare recessively inherited metabolic disorder causing accumulation of branched chain amino acids leading to neonatal death, if untreated. (nature.com)
Using relatively simple tests involving the detection of amino acids and acylcarnitines in dried blood spots on filter paper, Tandem Mass Spectrometry (TMS) allows for rapid screening and diagnosis of more than 40 metabolic disorders in amino acids, organic acids, and fatty acid oxidation, substantially improving the efficiency and accuracy of early diagnosis [ 5 , 6 ]. (alliedacademies.org)

Harlequin ichthyosis is a rare genetic skin disorder. (skincarehealthcenter.com)
Harlequin ichthyosis is inherited as an autosomal recessive trait. (skincarehealthcenter.com)
Individuals must inherit two recessive genes for lamellar ichthyosis to show the disease, one from each parent. (firstskinfoundation.org)

The β-thalassemias represent an autosomal recessive disorder with reduced production or absence of β-globin chains resulting in anemia. (iprojectmaterials.com)

The incidence of urea cycle disorders. (medscape.com)
it is typically administered to families who are in a defined ethnic group in which the disorder has a relatively high incidence. (newworldencyclopedia.org)

A metabolic disorder is any disease or disorder that negatively affects the biochemical reactions through which individual animal cells process nutrient molecules (such as the components of carbohydrates , proteins , and fats ) to yield energy or perform the functions necessary to sustain life (such as building complex molecules and creating cellular structure). (newworldencyclopedia.org)

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. (medscape.com)
Glycogen and lysosomal storage diseases, fatty acid oxidation disorders, and urea cycle disorders are represented among others. (geneticpassport.org)
This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. (medscape.com)
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases. (cdc.gov)

Zellweger spectrum disorder (ZSD) is a group of autosomal recessive disorders caused by biallelic pathogenic variants in any one of the 13 PEX genes essential for peroxisomal biogenesis. (stanford.edu)

Organic acid disorders Fatty acid oxidation disorders MMBID 8th ed. 2001, chapter 100, p 2289 Zschocke/Hoffmann: Vademecum Metabolicum. (abcdocz.com)

N-acetyl glutamate is required for the urea cycle to take place. (wikipedia.org)

However, a growing number of reports address adult-onset genetic disorders of the urea cycle in previously healthy individuals. (medscape.com)

Criteria from Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition ( DSM-5 ) should be used in the diagnosis of dementia. (medscape.com)

The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. (proteopedia.org)

Compounds that comprise the urea cycle are numbered sequentially, beginning with carbamyl phosphate. (medscape.com)
In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. (alliedacademies.org)

This is a severe neonatal disorder with fatal consequences, if not detected immediately upon birth. (wikipedia.org)
A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder. (stanford.edu)

ARCI is a rare disorder, estimated to occur in approximately 1 in 200,000 births. (firstskinfoundation.org)

Children under the age of two years and patients with mitochondrial disorders are at higher risk. (nih.gov)

3]. In the latter, when no cause can eases such as Bartter syndrome, in which vious siblings have suffered from the be identified (e.g. vomiting, diarrhoea, the majority of patients present with disorder [4]. (who.int)
Adolescent patients who have obsessive-compulsive disorder … Catabolism of Pyrimidine 3. (tempsite.ws)
In addition, patients with conditions that promote profound hyperuricosuria, such as myeloproliferative disorders and Lesch-Nyhan syndrome, are also at risk of developing these calculi. (bladeresearchinc.com)

the energy-producing centers in cells), where the protein transports a molecule called ornithine so it can participate in the urea cycle. (medlineplus.gov)

Anatomy17

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Nitrogen5

Arginase1

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