Biomaterial Database

Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1. 2010

Jan-Ulrich Schlump, and Ertan Mayatepek, and Ute Spiekerkoetter

Department of General Pediatrics, University Children's Hospital, Moorenstrasse 5, Düsseldorf, Germany. jan-ulrich.schlump@med.uni-duesseldorf.de

BACKGROUND In most countries, hereditary tyrosinemia type 1 is not included in routine newborn screening. CONCLUSIONS We present the case of a female newborn with prenatal diagnosis of hereditary tyrosinemia type 1 and clear identification of this disorder by succinylacetone measurement in cord blood and peripheral blood immediately after birth. Succinylacetone was 44 micromol/L (norm <5 micromol/L) and increased within 12 h to 87.5 micromol/L. CONCLUSIONS With the high toxic potential of downstream metabolites, these data clearly point out the necessity of early nitisinone treatment to prevent symptomatic disease.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D011296	Prenatal Diagnosis	Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.	Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D005260	Female		Females
D005312	Fetal Blood	Blood of the fetus. Exchange of nutrients and waste between the fetal and maternal blood occurs via the PLACENTA. The cord blood is blood contained in the umbilical vessels (UMBILICAL CORD) at the time of delivery.	Cord Blood,Umbilical Cord Blood,Blood, Cord,Blood, Fetal,Blood, Umbilical Cord,Bloods, Cord,Bloods, Fetal,Bloods, Umbilical Cord,Cord Blood, Umbilical,Cord Bloods,Cord Bloods, Umbilical,Fetal Bloods,Umbilical Cord Bloods
D006537	Heptanoates	Salts and esters of the 7-carbon saturated monocarboxylic acid heptanoic acid.	Enanthates
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000367	Age Factors	Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.	Age Reporting,Age Factor,Factor, Age,Factors, Age
D000509	alpha-Fetoproteins	The first alpha-globulins to appear in mammalian sera during FETAL DEVELOPMENT and the dominant serum proteins in early embryonic life.	alpha-Fetoprotein,alpha Fetoprotein,alpha Fetoproteins
D020176	Tyrosinemias	A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)	4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease,Fumarylacetoacetase Deficiency Disease,Tyrosine Transaminase Deficiency Disease,4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease,4-Hydroxyphenylpyruvate Dioxygenase Deficiency,4-Hydroxyphenylpyruvic Acid Oxidase Deficiency,Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase,Deficiency Disease, Fumarylacetoacetase,Deficiency Disease, Tyrosine Transaminase,Fumarylacetoacetase Deficiency,Hepatorenal Tyrosinemia,Hereditary Tyrosinemia, Type I,Hereditary Tyrosinemia, Type II,Hereditary Tyrosinemia, Type III,Hereditary Tyrosinemias,Hypertyrosinemia,Hypertyrosinemia, Type I,Keratosis Palmoplantaris with Corneal Dystrophy,Oregon Type Tyrosinemia,Richner-Hanhart Syndrome,Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type,Tat Deficiency,Tyrosine Aminotransferase Deficiency,Tyrosine Transaminase Deficiency,Tyrosinemia,Tyrosinemia Type 1,Tyrosinemia, Type 2,Tyrosinemia, Type I,Tyrosinemia, Type II,Tyrosinemia, Type III,Tyrosinemias, Hereditary,Tyrosinosis, Oculocutaneous Type,2 Tyrosinemias, Type,4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease,Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase,Deficiencies, Fumarylacetoacetase,Deficiencies, Tat,Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase,Deficiency Diseases, Fumarylacetoacetase,Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase,Deficiency, Fumarylacetoacetase,Deficiency, Tat,Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate,Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate,Disease, Fumarylacetoacetase Deficiency,Diseases, Fumarylacetoacetase Deficiency,Fumarylacetoacetase Deficiencies,Fumarylacetoacetase Deficiency Diseases,Hepatorenal Tyrosinemias,Hereditary Tyrosinemia,Hypertyrosinemias, Type I,Oculocutaneous Type Tyrosinoses,Oculocutaneous Type Tyrosinosis,Richner Hanhart Syndrome,Richner-Hanhart Syndromes,Syndrome, Richner-Hanhart,Syndromes, Richner-Hanhart,Tat Deficiencies,Type 2 Tyrosinemia,Type 2 Tyrosinemias,Type I Hypertyrosinemia,Type I Hypertyrosinemias,Type I Tyrosinemia,Type I Tyrosinemias,Type II Tyrosinemia,Type II Tyrosinemias,Type III Tyrosinemia,Type III Tyrosinemias,Type Tyrosinoses, Oculocutaneous,Type Tyrosinosis, Oculocutaneous,Tyrosinemia Type 1s,Tyrosinemia, Hepatorenal,Tyrosinemia, Hereditary,Tyrosinemias, Hepatorenal,Tyrosinemias, Type 2,Tyrosinemias, Type I,Tyrosinemias, Type II,Tyrosinemias, Type III,Tyrosinoses, Oculocutaneous Type