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Amino acid transport disorder
...lls where they are needed. These disorders can lead to a variety of health problems, including [[growth retardation]], [[mental retardation]], and [[organ dama ...nsport disorder, this process is disrupted, leading to a variety of health problems.

2 KB (319 words) - 16:03, 5 March 2024
Carbohydrate deficient glycoprotein syndrome
...ion of these glycoproteins, leading to a wide range of symptoms and health problems. ...others. Each type is associated with a specific set of symptoms and health problems.

2 KB (332 words) - 15:07, 2 March 2024
Phenylpyruvic acid
...a key player in various metabolic pathways and is associated with certain metabolic disorders, most notably [[Phenylketonuria]] (PKU). ==Role in Metabolic Pathways==

2 KB (309 words) - 18:27, 6 March 2024
Mucolipidosis
'''Mucolipidosis''' is a group of inherited [[metabolic disorders]] that affect the body's ability to carry out the normal turnover ...r. They can include [[developmental delay]], [[vision problems]], [[growth problems]], and [[coarse facial features]].

2 KB (232 words) - 08:55, 24 February 2024
Sarcosinemia
...ms or health problems. However, in some cases, it can lead to neurological problems such as mental retardation and seizures. ...y symptoms. However, in some cases, the condition can lead to neurological problems such as [[mental retardation]] and [[seizures]].

1 KB (215 words) - 10:50, 25 February 2024
Hypertryptophanemia
'''Hypertryptophanemia''' is a rare metabolic disorder characterized by an excess of the amino acid tryptophan in the blo * [[Behavioral problems]]

2 KB (216 words) - 04:14, 24 February 2024
Mucopolysaccharidosis
'''Mucopolysaccharidosis''' (MPS) is a group of [[metabolic disorders]] caused by the absence or malfunctioning of certain [[enzyme|enz * [[Vision problem|Vision and hearing problems]]

2 KB (242 words) - 18:07, 24 February 2024
Pyrimidinemia familial
'''Pyrimidinemia familial''' is a rare [[metabolic disorder]] characterized by an excess of [[pyrimidines]] in the blood. This ...d [[developmental delay]]. Other symptoms may include [[gastrointestinal]] problems, [[anemia]], and [[growth retardation]].

2 KB (267 words) - 16:20, 4 March 2024
Biotinidase
...e can lead to a variety of health problems, including [[metabolic disorder|metabolic disorders]], [[seizure|seizures]], [[hearing loss]], and [[skin rash|skin r ...ponsible for recycling the vitamin [[biotin]], which is essential for many metabolic processes in the body. Biotin acts as a coenzyme for carboxylases, the enzy

2 KB (247 words) - 06:06, 20 February 2024
Hyperlysinemia
..., but some may experience seizures, intellectual disability, or behavioral problems. ...me may experience [[seizures]], [[intellectual disability]], or behavioral problems. The severity of symptoms can vary widely among affected individuals.

2 KB (256 words) - 04:52, 24 February 2024
Lipidosis
'''Lipidosis''' is a metabolic disorder characterized by the abnormal accumulation of lipids in the body's ...in cells. These cells can accumulate harmful amounts of lipids, leading to problems in various organs such as the liver, spleen, and brain.

2 KB (347 words) - 06:08, 23 February 2024
Journal of Inherited Metabolic Disease
..., and other healthcare professionals involved in the care of patients with metabolic diseases. ...eviews, case reports, and short communications on all aspects of inherited metabolic disorders. Topics covered include, but are not limited to, the biochemical

3 KB (406 words) - 05:39, 31 March 2024
D-lactate-2-sulfatase
...tate-2-sulfate, a compound that is involved in various [[metabolic pathway|metabolic pathways]]. ...can cause various health problems. These can include [[metabolic disorder|metabolic disorders]], [[neurological disorder|neurological disorders]], and other co

2 KB (209 words) - 06:44, 11 March 2024
Flavin adenine dinucleotide
...' (FAD) is a [[redox]] cofactor involved in several important [[metabolism|metabolic reactions]]. It is a molecule that is synthesized from [[riboflavin]] (vita == Role in Metabolic Pathways ==

2 KB (258 words) - 04:31, 23 February 2024
CDG syndrome type 1A
...s of [[Congenital Disorders of Glycosylation]] (CDG), a group of inherited metabolic disorders characterized by defective glycoprotein biosynthesis. ...tribution, and distinctive facial features. Some individuals may also have problems with their heart, liver, kidneys, or other organs.

2 KB (274 words) - 15:16, 2 March 2024
Ethanol metabolism
...ction also produces [[NADH]] from [[NAD+]], a coenzyme involved in several metabolic processes. Acetaldehyde is then further metabolized to [[acetate]] by the e ...c processes. The NADH produced during ethanol metabolism can inhibit other metabolic processes, leading to a buildup of [[lactic acid]] and [[fatty acids]].

2 KB (318 words) - 22:46, 3 March 2024
Hypervalinemia
...dividuals with hypervalinemia typically do not have any symptoms or health problems associated with the condition. Hypervalinemia is inherited in an autosomal Most individuals with hypervalinemia do not have any symptoms or health problems associated with the condition. However, some individuals may have mild inte

2 KB (270 words) - 03:17, 22 February 2024
Inborn error of metabolism
...substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with n ...athways due to defects in enzymes. This deficiency leads to a block in the metabolic pathway involved.

2 KB (301 words) - 05:01, 24 February 2024
Peroxisomes
'''Peroxisomes''' are essential [[cell]]ular structures involved in various metabolic processes, including the breakdown of [[fatty acid]]s and the detoxificatio ...lipid bilayer that encloses the peroxisomal matrix, where the organelle's metabolic activities occur. The peroxisomal membrane contains proteins that are cruci

2 KB (245 words) - 18:08, 25 February 2024
List of amino acid metabolism disorders
...lds up in the blood and can cause intellectual disability and other health problems. ...ds to an accumulation of homocysteine, which can cause a variety of health problems, including intellectual disability, skeletal abnormalities, and increased r

4 KB (541 words) - 04:25, 23 January 2024