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Summary
LIVER DISEASE, LIVER FAILURE, UNSPECIFIC DD
unspecific liver disease/liver failure:
-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
Coagulopathy/Coagulation factors
coma
early death
encephalopathy
hepatomegaly (large liver)
hyperammonemia
hypotension
jaundice
lactic acidosis
liver failure
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
Organic acids, urine
pruritus
seizures
teleangiectasia
thromboembolism
laboratory finding
N-Acetyltryptophane 0.002.00mmol/mol creatinineurine
N-Acetyltyrosine30.00200.000.002.00mmol/mol creatinineurine
Ammonia200.002000.0025.0080.00-Ámol/lblood
Lactic acid100.0075000.003.5029.30mmol/mol creatinineurineadult
Lactic acid1.006.000.901.80mmol/lblood
pH7.007.407.357.45no unitblood
Transaminases30.002000.0010.0030.00U/lserum
DL-Kynurenin0.000.00 low/increasedurineno data
bleeding time 3.005.00prolongedblood
Methionine -Ámol/lplasma
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
Tetreault M,et al.Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndromeHum Genet1349981-9912015
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
Gu YHet al.A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosisJ Inherit Metab Dis284473-4782005
Lin Bet al.Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter geneHum Genet1050515-5171999