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Summary
LIVER DISEASE, LIVER FAILURE, UNSPECIFIC
unspecific: -infectious: Hepatitis A, B, C, Parvovirus B19, Echovirus 9, Coxsackie virus, Adenovirus, HSV, EBV, CMV, Rubella, Syphilis, Toxoplasma, Human Herpas virus 6) -adverse drug reactions (both toxic and hepatitic) - hemophagocytic lymphohistiocytosis - infiltrative diseases - irradiation damage - long-term TPN - vascular anomalies/tumors (hemangioma and arteriovenous malformation ) - neonatal lupus erythomatosus - hepatic neuroblastoma -Budd-Chiari-Syndrome - progressive familial intrahepatic cholestasis (Byler) -hereditary fructose intolerance -inborn errors of oxidative phosphorylation -neonatal hemochromatosis -tyrosinemia -alpha 1 antitrypsin deficiency -Wilsons disease -galactosemia -alpha-1-antitrypsin deficiency -Zellweger syndrome -Niemann Pick disease type C -Glycogen storage disease type IV -mitochondrial DNA depletion syndrome
symptoms
ascites
bleeding tendencies, hemorrhages
coma
early death
encephalopathy
hepatomegaly (large liver)
hyperammonemia
hypotension
jaundice
lactic acidosis
Organic acids, urine
pruritus
seizures
teleangiectasia
thromboembolism
laboratory finding
N-Acetyltryptophane 0.002.00increasedurine
N-Acetyltyrosine30.00200.000.002.00mmol/mol creatinineurine
Ammonia200.002000.0025.0080.00-Ámol/lblood
Lactate100.0075000.000.0025.00mmol/mol creatinineurineadult
Lactate1.006.000.901.80mmol/lblood
pH7.007.407.357.45no unitblood
Transaminases30.002000.0010.0030.00U/lserum
Kynurenine0.000.00 low/increasedurineno data
bleeding time 3.005.00prolongedblood
Coagulopathy/Coagulation factors abnormalblood
Literature
Goodman SIFrerman FEOrganic acidemias due to defects in lysine oxidation:2-ketoadipic acidemia and glutaric acidemiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1421451-14601995
Duran MBaumgartner ER, Sourmala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BTCerebrospinal fluid organic acids in Biotinidase deficiencyJ Inherit Metab Dis160513-5161993
Veiga-da-Cunha Met al.A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and IcAm J Hum Genet630976-9831998
Blau Net al.A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening programJ Pediatr1263401-4051995
Duran MBaumgartner ER, Sourmala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BTCerebrospinal fluid organic acids in Biotinidase deficiencyJ Inherit Metab Dis160513-5161993
Duran MBaumgartner ER, Sourmala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BTCerebrospinal fluid organic acids in Biotinidase deficiencyJ Inherit Metab Dis160513-5161993
Duran MBaumgartner ER, Sourmala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BTCerebrospinal fluid organic acids in Biotinidase deficiencyJ Inherit Metab Dis160513-5161993
Jemec GBMoe ATTopical treatment of skin ulcers in prolidase deficiencyPediatr Dermatol13058-601996
Lin Bet al.Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter geneHum Genet1050515-5171999