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Tyrosine Transaminase Deficiency

Tyrosinemia Type 2


Presentation

  • The first patient was a 25-year-old man, who presented with painful skin lesions of the palms and soles associated with increased sweating.[cags.org.ae]
  • The present findings show that hTATase is the only known aminotransferase that discriminates significantly between Tyr and Phe: the k(cat)/K(m) value for Tyr is about four orders of magnitude greater than that for Phe.[ncbi.nlm.nih.gov]
  • Presents a new chapter on genomics and personalized medicine for the latest on these hot topics.[books.google.com]
  • Many type III individuals present neurological symptoms and intellectual impairment is a common long-term complication. Patients with tyrosinemia I are treated with Nitisinone ( NTBC ).[invitae.com]
Burning Pain
  • The clinical diagnosis was based on the observation of several complications related to Richner-Hanhart syndrome: recurrent eye redness, tearing and burning pain, photophobia, bilateral pseudodendritic keratitis, an erythematous and painful focal palmo-plantar[cags.org.ae]
Multiple Congenital Anomalies
  • We have restudied a patient with typical symptoms of tyrosinemia II who in addition suffers from multiple congenital anomalies including severe mental retardation.[ncbi.nlm.nih.gov]
Short Finger
  • finger bones * Short toe bones Causes - Tyrosine transaminase deficiency Not supplied.[checkorphan.org]
Failure to Thrive
  • Symptoms usually appear in the first few months of life and include failure to gain weight and grow at the expected rate (failure to thrive), diarrhea, vomiting, yellowing of the skin and whites of the eyes (jaundice), cabbage-like odor, and increased[notacares.org]
  • Symptoms develop in the first months of life and include vomiting, bloody stools, nosebleeds, jaundice, cabbage-like odor and failure to thrive [5].[nutrientsreview.com]
  • […] to thrive, ketotic metabolic acidosis Treatment: Dietary phenylalanine and tyrosine restriction, ascorbate supplementation Alkaptonuria (203500) Homogentisate oxidase HGD (3q21-q23)* Biochemical profile: Elevated urine homogentisic acid Clinical features[merckmanuals.com]
  • Clinical Manifestations Type I Type I tyrosinemia in the acute form is characterized by failure to thrive, vomiting, diarrhea, a cabbage-like odor, hepatomegaly, fever, jaundice, edema, melena, and progressive liver disease.[wvdhhr.org]
Hyperkeratosis
  • Abstract Tyrosinemia type II (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, mental retardation, and elevated blood tyrosine levels.[ncbi.nlm.nih.gov]
  • Upon examination, they were all found to have lesions confined mainly to the soles and palms, along with ill-defined hyperkeratosis and lamellar peeling with fissuring. These lesions were tender and often painful.[cags.org.ae]
  • Symptoms of tyrosinemia type 2 often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles (palmoplantar hyperkeratosis).[rarediseases.info.nih.gov]
Increased Sweating
  • The first patient was a 25-year-old man, who presented with painful skin lesions of the palms and soles associated with increased sweating.[cags.org.ae]
  • This condition is inherited in an autosomal recessive manner. 0001249 Palmoplantar keratoderma 0000982 30%-79% of people have these symptoms Abnormality of amino acid metabolism 0004337 Hyperhidrosis Excessive sweating Increased sweating Profuse sweating[rarediseases.info.nih.gov]
Plantar Hyperkeratosis
  • hyperkeratosis and a mild delay of mental development.[cags.org.ae]
Red Skin Lesion
  • TYR II tends to affect the skin and eyes, so common symptoms of this condition may include increased tear production, sensitivity to light (called photophobia), eye redness, skin lesions or cuts on the hands and feet, behavior changes, and poor coordination[diseaseinfosearch.org]
  • These signs include: Increased tear production Sensitivity to light (called photophobia) Eye redness Skin lesions on the hands and feet Behavior changes Poor coordination Many of these signs may occur when your baby eats foods that their body cannot break[babysfirsttest.org]
Hyperhidrosis
  • This condition is inherited in an autosomal recessive manner. 0001249 Palmoplantar keratoderma 0000982 30%-79% of people have these symptoms Abnormality of amino acid metabolism 0004337 Hyperhidrosis Excessive sweating Increased sweating Profuse sweating[rarediseases.info.nih.gov]
Photophobia
  • He had at the age of 1 year photophobia and recurrent eye pain, redness and tearing began at the age of 8 months. His serum tyrosine level was elevated and an excessive excretion of tyrosine and its metabolites was found in the urine.[cags.org.ae]
  • TYR II tends to affect the skin and eyes, so common symptoms of this condition may include increased tear production, sensitivity to light (called photophobia), eye redness, skin lesions or cuts on the hands and feet, behavior changes, and poor coordination[diseaseinfosearch.org]
  • Symptoms of tyrosinemia type 2 often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles (palmoplantar hyperkeratosis).[rarediseases.info.nih.gov]
  • These signs include: Increased tear production Sensitivity to light (called photophobia) Eye redness Skin lesions on the hands and feet Behavior changes Poor coordination Many of these signs may occur when your baby eats foods that their body cannot break[babysfirsttest.org]
Eye Pain
  • Symptoms of tyrosinemia type 2 often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles (palmoplantar hyperkeratosis).[rarediseases.info.nih.gov]
  • He had at the age of 1 year photophobia and recurrent eye pain, redness and tearing began at the age of 8 months. His serum tyrosine level was elevated and an excessive excretion of tyrosine and its metabolites was found in the urine.[cags.org.ae]
  • Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles.[notacares.org]
Excessive Tearing
  • Symptoms of tyrosinemia type 2 often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles (palmoplantar hyperkeratosis).[rarediseases.info.nih.gov]
  • Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles.[notacares.org]
  • Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye redness, painful skin lesions on the palms and soles, and mental retardation [5]. Diagnosis.[nutrientsreview.com]
Lacrimation
  • Symptoms - Tyrosine transaminase deficiency * Lacrimation * Sensitivity to light * Redness * Painful lesion * Nonpruritic knee lesions * Nonpruritic palm lesions * Nonpruritic sole lesions * Blistered lesions * Lesions of thickened skin * Mental retardation[checkorphan.org]
  • Eye findings may be limited to lacrimation, photophobia, and redness. Signs may include mild corneal herpetiform erosions, dendritic ulcers, and, rarely, corneal and conjunctival plaques. Neovascularization may be prominent.[wvdhhr.org]
Lacrimation
  • Symptoms - Tyrosine transaminase deficiency * Lacrimation * Sensitivity to light * Redness * Painful lesion * Nonpruritic knee lesions * Nonpruritic palm lesions * Nonpruritic sole lesions * Blistered lesions * Lesions of thickened skin * Mental retardation[checkorphan.org]
  • Eye findings may be limited to lacrimation, photophobia, and redness. Signs may include mild corneal herpetiform erosions, dendritic ulcers, and, rarely, corneal and conjunctival plaques. Neovascularization may be prominent.[wvdhhr.org]
Suggestibility
  • The genesis of these cellular alterations based on the liberation of lysosomial enzymes by the action of crystals of tyrosine has been suggested by Goldsmith from experimental facts.[ncbi.nlm.nih.gov]
  • Features mini-summaries, study questions, suggested reading, and a detailed glossary to supplement and reinforce what you learn from the text.[books.google.com]
  • If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment.[babysfirsttest.org]
  • Diagnosis of tyrosinemia type I is suggested by elevated plasma levels of tyrosine; it is confirmed by genetic testing or a high level of succinylacetone in plasma or urine and by low fumarylacetoacetate hydroxylase activity in blood cells or liver biopsy[merckmanuals.com]
  • Others have suggested a mild decrease in TAT activity. Inheritance Type I and II tyrosinemias are autosomal recessive, with a 25% risk of recurrence in siblings.[wvdhhr.org]
Poor Coordination
  • TYR II tends to affect the skin and eyes, so common symptoms of this condition may include increased tear production, sensitivity to light (called photophobia), eye redness, skin lesions or cuts on the hands and feet, behavior changes, and poor coordination[diseaseinfosearch.org]
  • These signs include: Increased tear production Sensitivity to light (called photophobia) Eye redness Skin lesions on the hands and feet Behavior changes Poor coordination Many of these signs may occur when your baby eats foods that their body cannot break[babysfirsttest.org]

Treatment

  • Treatment Dietary Treatments Your baby may need to be on a restricted diet in order to avoid certain proteins that their body cannot break down.[babysfirsttest.org]
  • Prognosis - Tyrosine transaminase deficiency Prognosis of Oculocutaneous tyrosinemia: good but lack of treatment can cause mental retardation Treatment - Tyrosine transaminase deficiency Not supplied.[checkorphan.org]
  • Talk with your baby’s doctor and specialists to decide on the best treatment plan. Support groups are also a good source of information.[diseaseinfosearch.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]

Prognosis

  • Prognosis - Tyrosine transaminase deficiency Prognosis of Oculocutaneous tyrosinemia: good but lack of treatment can cause mental retardation Treatment - Tyrosine transaminase deficiency Not supplied.[checkorphan.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • In a later study, Bouyacoub et al. (2013) studied the clinical features and molecular etiology of the tyrosine aminotransferase (TAT) gene in two young patients, both born to consanguineous unions between first-degree cousins.[cags.org.ae]

Epidemiology

  • Access is intended to spur hypothesis generation and testing , cross-cohort analysis of risk factors and outcomes, development of new signal processing tools, and to enhance training in clinical analysis, signal processing , epidemiological analysis ,[incosact.org]
Sex distribution
Age distribution

Pathophysiology

  • […] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology[books.google.com]
  • Mild retardation and decreased psycholinguistic abilities have been noted in some studies. 179 Pathophysiology Type I This disorder, although not a primary disorder of tyrosine metabolism, is accompanied by increased concentrations of tyrosine and its[wvdhhr.org]

Prevention

  • Prevention - Tyrosine transaminase deficiency Not supplied. Diagnosis - Tyrosine transaminase deficiency The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Oculocutaneous tyrosinemia.[checkorphan.org]
  • Many of these complications can be prevented with early detection and lifelong management with a special diet.[diseaseinfosearch.org]
  • The aim of dietary management is to prevent the accumulation of phenylalanine, tyrosine and sometimes methionine by means of a low protein diet.[nutricia.ie]
  • The Lipid Research Clinics Coronary Primary Prevention Trial Results, II: the relationship of reduction in incidence of coronary heart disease to cholesterol lowering. ‎[books.google.es]
  • Tyrosine supplements are POSSIBLY INEFFECTIVE [3] in the prevention or treatment of depression or attention deficit disorder (ADD) in adults and attention deficit hyperactivity disorder (ADHD) in children or in increasing physical performance [10].[nutrientsreview.com]

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