Presentation
Cardiac Presentation Some metabolic disorders can present predominantly with cardiac disease. [obgynkey.com]
Tyrosinemia type I may also manifest as a disease of proximal renal tubular dysfunction, which may be present with or without associated liver manifestations at the time of initial presentation. [clinicaladvisor.com]
Nephromegaly and nephrocalcinosis may be present on ultrasound examination. Hypertrophic cardiomyopathy and hyperinsulinism are seen in some infants. [clinicalgate.com]
Comorbid & Secondary Conditions Neurologic crises, which occur in untreated children, are variable in presentation. [medicalhomeportal.org]
Hypertyrosinemia is present in most untreated patients. The presence of elevated levels of succinylacetone in plasma or urine is diagnostic for this condition. [ommbid.mhmedical.com]
Entire Body System
- Pain
Stay current with coverage of hot topics including MRSA, neonatal pain, cardiovascular fetal interventions, care of the late preterm infant, and the developing intestinal microbiome. [books.google.com]
These neurologic crises typically present with painful lower extremities, but this may progress to changes in mental status, severe abdominal pain, peripheral neuropathy and respiratory failure. [clinicaladvisor.com]
Neurologic crises : Some children have episodes of weakness, pain or numbness in their arms, legs or other parts of the body. Breathing problems and rapid heartbeat may also happen. Some children have seizures that can lead to coma. [newbornscreening.info]
Deficiency of cytoplasmic tyrosine aminotransferase (TAT) results in oculocutaneous tyrosinemia, characterized by palmoplantar keratosis and painful corneal erosions with photophobia (OMIM 276600). Half of reported patients have mental retardation. [ommbid.mhmedical.com]
Skin lesions, which may develop later in life, include painful, nonpruritic hyperkeratotic plaques on the soles, palms and fingertips. [clinicalgate.com]
- Acute Intermittent Porphyria
At times, tyrosinemia type I may demonstrate intermittent acute peripheral neurologic signs/symptoms mimicking acute intermittent porphyria. [clinicaladvisor.com]
Abdominal pain may accompany these crises, which may resemble an acute intermittent porphyria crisis. Crises may last 1 day to 1 week. [medicalhomeportal.org]
Acute intermittent porphyria and hereditary coproporphyria present classically with recurrent attacks of vomiting, abdominal pain, neuropathy, and psychiatric symptoms. [obgynkey.com]
- Severe Pain
These crises, often triggered by a minor infection, are characterized by severe pain, often in the legs, associated with hypertonic posturing of the head and trunk, vomiting, paralytic ileus, and, occasionally, self-induced injuries of the tongue or buccal [clinicalgate.com]
Gastrointestinal
- Failure to Thrive
Gastrointestinal Involvement, Failure to Thrive, Anemia, and Recurrent Infections Gastrointestinal (GI) findings (anorexia, failure to thrive, chronic vomiting) and osteoporosis occur in a wide variety of IEM. [obgynkey.com]
Brief resolved unexplained event -- BRUE (Medical Encyclopedia) Crying - excessive (0-6 months) (Medical Encyclopedia) Failure to thrive (Medical Encyclopedia) Hemorrhagic disease of the newborn (Medical Encyclopedia) Hyperglycemia - infants (Medical [icdlist.com]
It results in metabolic acidosis and failure to thrive in infancy. Hypertyrosinemia is minimal or absent. [ommbid.mhmedical.com]
Most hepatic crises resolve spontaneously, but may progress to liver failure and death. Between the crises, varying degrees of failure to thrive, hepatomegaly, and coagulation abnormalities often persist. [clinicalgate.com]
In cases of failure to thrive with aminoaciduria, consider cystinosis, which has no liver symptomatology, and a number of intrinsic renal diseases and extrinsic causes of renal injury. [clinicaladvisor.com]
- Abdominal Pain
Children with tyrosinemia type 1 also have neurologic crises and severe abdominal pain or other neurologic problems. [medicalhomeportal.org]
These neurologic crises typically present with painful lower extremities, but this may progress to changes in mental status, severe abdominal pain, peripheral neuropathy and respiratory failure. [clinicaladvisor.com]
Acute intermittent porphyria and hereditary coproporphyria present classically with recurrent attacks of vomiting, abdominal pain, neuropathy, and psychiatric symptoms. [obgynkey.com]
Skin
- Keratosis
Deficiency of cytoplasmic tyrosine aminotransferase (TAT) results in oculocutaneous tyrosinemia, characterized by palmoplantar keratosis and painful corneal erosions with photophobia (OMIM 276600). Half of reported patients have mental retardation. [ommbid.mhmedical.com]
Oculocutaneous Tyrosinemia • Deficiency of tyrosine amino transferase • Mental retardation • Keratosis of palmar surface • Painful corneal lesions • Photophobia • tyrosine and tyramine in urine • Low protein diet 22. [slideshare.net]
Skin lesions may be difficult to distinguish from any of the more common forms of keratosis. [wvdhhr.org]
With keratomalacia 264.5 With night blindness 264.6 With xerophthalmic scars of cornea 264.7 Other ocular manifestations of vitamin A deficiency Xerophthalmia due to vitamin A deficiency 264.8 Other manifestations of vitamin A deficiency Follicular keratosis [theodora.com]
[…] keratomalacia E50.5 Vitamin A deficiency with night blindness E50.6 Vitamin A deficiency with xerophthalmic scars of cornea E50.7 Other ocular manifestations of vitamin A deficiency Xerophthalmia NOS E50.8 Other manifestations of vitamin A deficiency Follicular keratosis [en.wikisource.org]
- Hyperkeratosis
A skin biopsy is not diagnostic and may show nonspecific hyperkeratosis, acanthosis, and parakeratosis. Skin lesions may be difficult to distinguish from any of the more common forms of keratosis. [wvdhhr.org]
Tyrosinemia Type II (Richner-Hanhart Syndrome, Oculocutaneous Tyrosinemia) This rare autosomal recessive disorder is caused by deficiency of tyrosine aminotransferase, resulting in palmar and plantar hyperkeratosis, herpetiform corneal ulcers, and mental [clinicalgate.com]
- Petechiae
Ortho-static acrocyanosis, relapsing petechiae, pyramidal signs, mental retardation, and recurrent attacks of lactic acidosis suggest ethylmalonic encephalopathy (EPEMA syndrome). 16 The presence of megaloblastic anemia suggests an inborn error of folate [obgynkey.com]
- Purpura
273 Disorders of plasma protein metabolism Excludes: agammaglobulinemia and hypogammaglobulinemia (279.0-279.2) coagulation defects (286.0-286.9) hereditary hemolytic anemias (282.0-282.9) 273.0 Polyclonal hypergammaglobulinemia Hypergammaglobulinemic purpura [theodora.com]
Urogenital
- Phenylketonuria
Medical Research Council, Treatment of Phenylketonuria. Brit. Med. J. 2, 1691–1697 (1963) Google Scholar 45. Working Party on Phenylketonuria. Present status of different mass screening procedures for phenylketonuria. Brit. med. J. 4, 7–13, 1968. [link.springer.com]
Learning outcome • Phenylketonuria (PKU) • Alkaptonuria • Albinism • Hypertyrosinemias 3. 1)Phenylketonuria (PKU) Intro • Genetic mutation; – enzyme not synthesized – enzyme non-functional • 1 : 1 500 (WHO) • Phenylalanine in serum • Minor pathways are [slideshare.net]
4837567 details Urine Detected and Quantified 33.261 +/- 20.0820 umol/mmol creatinine Children (1-13 years old) Both Phenylketonuria 4837567 details Urine Detected and Quantified 24.00 +/- 30.5 umol/mmol creatinine Newborn (0-30 days old) Both Phenylketonuria [hmdb.ca]
[…] arginine can't form ornithine • Symptoms: Vomiting, irritability, movement disorder • Diagnosis: Increased arginine Urea Cycle Defect Treatment Protein Restricted Diet, Na Benzoate (Nitrogen Scavenger), arginine, liver transplant, dialysis, IV glucose Phenylketonuria [quizlet.com]
[…] hyperphenylalaninemia,新生児一過性高フェニルアラニン血症 70~90% 6. secondary mild phenylketonuria due to total parenteral nutrition,中心静脈栄養長期施行下にまれにみられる二次性フェニルケトン尿症 90~99% 7. secondary mild phenylketonuria due to methotrexate,メトトレキサート使用下にまれにみられる二次性フェニルケトン尿 C. [jc-metabolomics.com]
Treatment
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Corneal opacities associated with NTBC treatment. Am J Ophthalmol. 2002; 134 (2): 266-8[ PubMed ] [ijp.tums.pub]
Treatment: Nitrisinone (NTBC) inhibits pHPPD enzyme to make it like Type III hypertyrosinemia which is benign since there is no elevated succinylacetone accumulation Oculocutaneous Tyrosinemia (Type II) Lesion: error in transaminase pHPPD deficiency [quizlet.com]
[…] guidelines for the diagnosis or treatment of tyrosinemia type 1. [medicalhomeportal.org]
You must start the treatment as soon as you know your child has the condition. The following treatments are often recommended for children with tyrosinemia 1: 1. [newbornscreening.info]
Prognosis
Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology. 1994; 20 (5): 1187-91[ PubMed ] 3. van Spronsen FJ, Smit GP, Wijburg FA, Thomasse Y, Visser G, Heymans HS. [ijp.tums.pub]
The earlier the presentation, the poorer is the prognosis. The 1 yr mortality, which is about 60% in infants who develop symptoms before 2 mo of age, decreases to 4% in infants who become symptomatic after 6 mo of age. [clinicalgate.com]
FAH gene testing (GTR) Prognosis If untreated, affected children typically die in childhood. [medicalhomeportal.org]
The prognosis for liver, renal, and neurologic complications from untreated tyrosinemia type I is very poor. [clinicaladvisor.com]
Etiology
Ongoing controversies regarding etiology, diagnosis, treatment N/A Copyright © 2017, 2013 Decision Support in Medicine, LLC. All rights reserved. [clinicaladvisor.com]
[…] are attributed to sepsis • Carefully review all autopsy findings • Do not confuse a symptom (such as peripheral neuropathy, retinitis pigmentosa, cardiomyopathy, etc) or a syndrome (such as Reye syndrome, Leigh syndrome, sudden infant death, etc) with etiology [obgynkey.com]
Epidemiology
Roller In a collective prospective epidemiological study on 13,643 pregnanciesfrom 1963 to 1975, an attempt was made to explore all accessible factors ofpossible influence on the course of pregnancy and child development. Author(s): F.J. [nestlenutrition-institute.org]
There is no clearly established epidemiology. It has been associated with mental retardation, ataxia, and in asymptomatic patients by routine screening for elevated tyrosine. It may be associated with eye and skin findings if untreated. [clinicaladvisor.com]
Pathophysiology
[…] tyrosine Diagnosis of Tyr 1 Follow-up of patients with Tyr 1 Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]
Type III tyrosinemia can be diagnosed by detection of a mutation in HPD in cultured fibroblasts. [3] Pathophysiology of metabolic disorders of tyrosine, resulting in elevated levels of tyrosine in blood. [en.wikipedia.org]
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]
From a pathophysiological perspective, metabolic disorders from Category 2 can be divided into three diagnostically useful groups. Group 1 Disorders that cause intoxication. [obgynkey.com]
Prevention
0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [medicbind.com]
Now, nitisinone can prevent or reverse many of the liver problems and decreases the risk of developing liver cancer. For most children, nitisinone will delay, and hopefully prevent, the need for liver transplant. [newbornscreening.info]
Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection. [books.google.com]
Hepatic transplantation cures the liver manifestations and prevents further neurologic crises. [ommbid.mhmedical.com]