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Transient Neonatal Hypertyrosinemia

Transient Tyrosinemia of the Newborn


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]
Pain
  • 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]
  • 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]
  • 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]
  • Skin lesions, which may develop later in life, include painful, nonpruritic hyperkeratotic plaques on the soles, palms and fingertips.[clinicalgate.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]
Asymptomatic
  • Although most children with transient neonatal tyrosinemia are asymptomatic and have normal development, some adverse effect on development cannot be eliminated. A human maleylacetoacetate isomerase (MAI) cDNA has been cloned.[ommbid.mhmedical.com]
  • […] citrulline • Symptoms: Vomiting, Lethargy, Seizures, Coma, intellectual disability • Diagnosis: Increased orotic acid, increased glutamine, decreased citrulline • Inheritance: X-linked so males have severe neonatal ammonia intoxication and females can be asymptomatic[quizlet.com]
  • 結節性多発性動脈炎 polyarteritis nodosa 血栓症 thrombosis 限局性結節性過形成 focal nodular hyperplasia 原発性肝癌 primary liver cancer 原発性硬化性胆管炎 primary sclerosing cholangitis 原発性胆汁性肝硬変 primary biliary cirrhosis 症候性原発性胆汁性肝硬変 symptomatic primary biliary cirrhosis 無症候性原発性胆汁性肝硬変 asymptomatic[jsge.or.jp]
  • […] age-related (natural) postmenopausal status (V49.81) 256.3 Other ovarian failure Use additional code for states associated with natural menopause (627.2) Excludes: asymptomatic age-related (natural) postmenopausal status (V49.81) 256.31 Premature menopause[theodora.com]
  • 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]
Failure to Thrive in Infancy
  • It results in metabolic acidosis and failure to thrive in infancy. Hypertyrosinemia is minimal or absent.[ommbid.mhmedical.com]
  • Diagnostic Approach to Inborn Errors of Metabolism with Chronic Diarrhea, Poor Feeding, Vomiting, Failure to Thrive Early Infancy Disorders Associated with Extraneurological Symptoms Visceral signs appear in lysosomal disorders.[obgynkey.com]
Pathologist
  • Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016.[books.google.com]
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]
  • Severe metabolic acidosis, ketosis, failure to thrive, mild hepatomegaly, and an unusual odor (like that of a swimming pool) are described. Mental development is usually normal.[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]
Photophobia
  • 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]
  • 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]
  • 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]
  • Ophthalmologic symptoms usually present first, with pain, redness, lacrimation and photophobia. Bilateral dendritic corneal erosions are evident on slit lamp exam, which untreated lead to scars, glaucoma and visual loss.[clinicaladvisor.com]
  • Ocular manifestations include excessive tearing, redness, pain, and photophobia and often occur before skin lesions. Corneal lesions are presumed to be due to tyrosine deposition.[clinicalgate.com]
Ectopia Lentis
  • lentis, developmental delay Classical Homocystinuria Diagnosis Diagnosis: increased methionine, increased homocysteine Classical Homocystinuria Treatment Treatment: Betaine and Pyridoxine (B6), low methionine diet -Betaine: forces homocysteine to reform[quizlet.com]
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]
Palmoplantar 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]
Broad Nasal Bridge
  • Waardenburg Syndrome In this syndrome, a white forelock is associated with lateral displacement of inner canthi, broad nasal bridge, heterochromia of irides, and sensorineural deafness. This condition is inherited as an autosomal dominant trait.[clinicalgate.com]
Renal Injury
  • 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]
Peripheral Neuropathy
  • Symptoms are highly variable and include acute liver failure, cirrhosis, hepatocellular carcinoma, renal Fanconi syndrome, glomerulosclerosis, and crises of peripheral neuropathy. Hypertyrosinemia is present in most untreated patients.[ommbid.mhmedical.com]
  • Episodes of acute peripheral neuropathy resembling acute porphyria occur in 40% of affected children.[clinicalgate.com]
  • Other features include the renal Fanconi syndrome and peripheral neuropathy. 177 Type I tyrosinemia is caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH).[wvdhhr.org]
  • Neurologic Exam Children in crisis may present with altered mental status and peripheral neuropathy, which may cause respiratory compromise. Testing Newborn screening identifies most children with this condition.[medicalhomeportal.org]
  • Late-onset forms of pyruvate dehydrogenase (PDH) deficiency can present in childhood with recurrent attacks of ataxia, sometimes described by the patient as recurrent episodes of pain or muscular weakness (due to dystonia or to peripheral neuropathy).[obgynkey.com]
Stroke
  • […] all the latest approaches in clinical laboratory medicine with new and updated coverage of: the chemical basis for analyte assays and common interferences; lipids and dyslipoproteinemia; markers in the blood for cardiac injury evaluation and related stroke[books.google.com]
  • Funding and Disclosures Supported by a grant (NS 05096) from the National Institute of Neurological and Communicative Disorders and Stroke, by Project 928 from Maternal and Child Health Service, U.S.[nejm.org]
  • Neurological coma with focal signs, seizures, severe intracranial hypertension, strokes, or strokelike episodes .[obgynkey.com]
  • […] adrenoleukodystrophy Rhizomelic chrondrodysplasia punctata X-linked adrenoleukodystrophy Zellweger syndrome Excludes: infantile Refsum disease (356.3) 277.87 Disorders of mitochondrial metabolism Kearns-Sayre syndrome Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like[theodora.com]
  • Leber's disease (H47.22) Leigh's encephalopathy (G31.82) Mitochondrial myopathy, NEC (G71.3) Reye's syndrome (G93.7) E88.40 Mitochondrial metabolism disorder, unspecified E88.41 MELAS syndrome Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like[en.wikisource.org]

Workup

Hepatocellular Carcinoma
  • Patients treated with NTBC, an inhibitor of 4HPPD, have not developed acute hepatic or neurologic crises, but current data do not allow conclusions on the long-term risk of hepatocellular carcinoma in NTBC-treated patients.[ommbid.mhmedical.com]
  • Similarly, survivors showed a high frequency of development of hepatocellular carcinoma, perhaps 20%-30%.[clinicaladvisor.com]
  • Even in treated children, hepatocellular carcinoma should be screened for at periodic intervals. Neuropsychological evaluation should be considered if the child has learning or attention problems.[medicalhomeportal.org]
  • Liver transplantation is an effective therapy for tyrosinemia type I and alleviates the risk of hepatocellular carcinoma.[clinicalgate.com]
  • Hepatocellular carcinoma may also be a cause of death.[wvdhhr.org]

Treatment

  • Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances.[books.google.de]
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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]

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]
  • FAH gene testing (GTR) Prognosis If untreated, affected children typically die in childhood.[medicalhomeportal.org]
  • 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]
  • The prognosis for liver, renal, and neurologic complications from untreated tyrosinemia type I is very poor.[clinicaladvisor.com]

Etiology

  • ., acetaminophen toxicity and others), autoimmune etiologies, and a large number of inborn errors of metabolism (IEM).[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]
Sex distribution
Age distribution

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

  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.com]
  • - 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]
  • Hepatic transplantation cures the liver manifestations and prevents further neurologic crises.[ommbid.mhmedical.com]

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