of untreated tyrosinemia include liver and kidney disturbances. Without treatment, tyrosinemia leads to liver failure. Today, tyrosinemia is increasingly...
7 KB (685 words) - 01:50, 27 February 2022
Tyrosinemia type I is a genetic disorder that disrupts the metabolism of the amino acid tyrosine, resulting in damage primarily to the liver along with...
30 KB (3,369 words) - 09:15, 17 November 2023
Tyrosinemia type II is an autosomal recessive condition with onset between ages 2 and 4 years, when painful circumscribed calluses develop on the pressure...
4 KB (298 words) - 22:58, 6 November 2023
Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27), encoded by the gene...
3 KB (160 words) - 22:59, 6 November 2023
disease G6PD deficiency Disorders of amino acid metabolism phenylketonuria tyrosinemia maple syrup urine disease glutaric acidemia type 1 Urea Cycle Disorder...
15 KB (1,517 words) - 07:36, 14 July 2024
effects of hereditary tyrosinemia type 1 (HT-1). It is available as a generic medication. Nitisinone is used to treat hereditary tyrosinemia type 1 (HT-1) in...
10 KB (893 words) - 02:51, 22 June 2024
the observed liver enzyme activity in FAH deficiency during hereditary tyrosinemia type 1. In humans, this enzyme is mainly expressed in the liver. FAH...
21 KB (2,536 words) - 15:28, 8 July 2024
Both lead poisoning and succinylacetone, whose levels are increased in tyrosinemia type I, inhibit ALAD. Therefore, these conditions should also be considered...
10 KB (972 words) - 21:09, 18 July 2024
syndrome Corneodermatosseous syndrome Huriez syndrome Oculocutaneous tyrosinemia Cardiofaciocutaneous syndrome Schöpf–Schulz–Passarge syndrome Acquired...
4 KB (241 words) - 21:28, 6 June 2024
Iodinated tyrosine derivatives Pauly reaction Tyramine Tyrosine sulfation Tyrosinemia Frey MN, Koetzle TF, Lehmann MS, Hamilton WC (1973). "Precision neutron...
26 KB (2,535 words) - 10:37, 2 September 2024
mononucleosis Influenza Magnesium deficiency Mercury poisoning Migraine Rabies Tyrosinemia type II Superior canal dehiscence syndrome[not specific enough to verify]...
18 KB (1,794 words) - 05:14, 1 September 2024
phenylketonuria would differ substantially from one with homocystinuria or tyrosinemia. By studying the composition of food in the local population in Germany...
17 KB (2,136 words) - 08:08, 14 March 2024
deficiency of the enzyme in humans can result in what is known as type II tyrosinemia, wherein there is an abundance of tyrosine as a result of tyrosine failing...
8 KB (965 words) - 03:44, 22 December 2023
has led to the province having a higher rate of hypercholesterolemia, tyrosinemia, spastic ataxia, intestinal atresia, myotonic dystrophy, etc., in the...
35 KB (3,306 words) - 22:19, 28 August 2024
homogentisate in the blood stream. HPPD is also directly linked to Type III tyrosinemia When the active HPPD enzyme concentration is low in the human body, it...
15 KB (1,645 words) - 10:49, 20 May 2024
disease in a child with Henoch–Schönlein purpura, or succinylacetone for Tyrosinemia Type I.[citation needed] As opposed to symptoms (reported subjectively...
9 KB (736 words) - 22:08, 9 April 2024
4-hydroxyphenylpyruvate dioxygenase. Complete deficiency of this enzyme would lead to tyrosinemia III. In rare cases, however, the enzyme is still able to produce the...
4 KB (400 words) - 02:49, 25 April 2022
genetically inherited condition of copper metabolism), Lowe syndrome, tyrosinemia (type I), galactosemia, glycogen storage diseases, and hereditary fructose...
12 KB (1,203 words) - 04:58, 14 August 2024
enzymes affected by deficiency of biotinidase, treatment with NTBC in Tyrosinemia to inhibit the production of succinylacetone which causes liver toxicity...
49 KB (5,490 words) - 12:38, 20 August 2024
deficiency Methylmalonic acidemia Maple syrup urine disease Homocystinuria Tyrosinemia Trimethylaminuria Hartnup disease Biotinidase deficiency Ornithine carbamoyltransferase...
2 KB (71 words) - 17:57, 21 April 2024
Hepatoblastoma Hepatocellular carcinoma Hepatorenal syndrome Hepatorenal tyrosinemia Herpes Hereditary a – Hereditary m Hereditary amyloidosis Hereditary...
21 KB (1,717 words) - 04:04, 12 March 2024
Incidence of adenomas may be increased in metabolic diseases, including tyrosinemia and type 1 diabetes mellitus, and glycogen storage diseases (types 1...
11 KB (1,008 words) - 19:25, 8 December 2023
melasma, and prescribe a hydroquinone-containing cream. Alkaptonuria Tyrosinemia Phenylketonuria List of cutaneous conditions Findlay GH, et al. Ochronosis...
11 KB (1,304 words) - 19:45, 3 December 2023
Endocrinology Differential diagnosis Phenylketonuria (PKU), BH4 Deficiency (Tetrahydrobiopterin Deficiency), Tyrosinemia. Frequency 15–75 per 1,000,000 births....
8 KB (841 words) - 02:54, 14 May 2024
glycogen storage diseases, porphyria cutanea tarda, Wilson's disease, tyrosinemia have all been associated with development of HCC. Oral contraceptive...
57 KB (6,080 words) - 08:47, 12 August 2024
S/Beta-Thalassemia (Hb S/Th) > 1 in 50,000 Inborn errors of amino acid metabolism Tyrosinemia I (TYR I) < 1 in 100,000 Argininosuccinic aciduria (ASA) < 1 in 100,000...
7 KB (716 words) - 06:19, 9 June 2024
syndrome, (COL2A1-related) Stuttering Triose Phosphate Isomerase deficiency tyrosinemia Von Willebrand Disease G-banding ideograms of human chromosome 12 "Search...
27 KB (1,735 words) - 22:13, 28 March 2024
It is a pathognomonic compound found in the urine of patients with tyrosinemia type 1, which is due to congenital deficiency of an enzyme, fumarylacetoacetate...
2 KB (139 words) - 22:54, 2 December 2023
Turner-like syndrome Turner's syndrome Tutuncuoglu syndrome Twin-to-twin transfusion syndrome Typhoid Typhus Tyrosinemia Tyrosine-oxidase temporary deficiency...
10 KB (849 words) - 03:37, 11 January 2024
dehydratase deficiency or in patients with symptoms due to hereditary tyrosinemia type I. In cases of mercury- or arsenic poisoning-induced porphyria,...
64 KB (6,621 words) - 21:00, 29 August 2024