Mutation/syndrome | Defect | Onset/age of presentation | Hepatic presentation | Neurologic features | Other features | Diagnostic tests |
DGUOK[1-3] | mtDNA depletion; complex I, III, IV | Acute/early neonatal | Neonatal liver failure, progressive cholestasis, neonatal hemochromatosis, hepatocellular carcinoma risk; can have isolated liver disease | Hypotonia, developmental regression, nystagmus | Lactic acidosis, hypoglycemia | DGUOK sequence analysis |
POLG[4,5] | mtDNA depletion; complex I, III, IV | Acute/neonatal | Neonatal liver failure, micro- or macrovesicular steatosis, cirrhosis | Encephalopathy, seizures, myopathy, neuropathy, blindness, developmental regression | Vomiting, GERD | POLG sequence analysis or panel |
MPV17/Navajo neurohepatopathy[6,7] | mtDNA depletion; complex I, III, IV | Acute/neonatal | Isolated neonatal/infant liver failure or in multisystem syndrome | Progressive sensorimotor neuropathy; CNS white matter lesions | Acidosis, FTT, corneal anesthesia/abrasions, acral mutilation | MPV17 sequence analysis or panel |
TWINKLE (C10ORF2)[8,9] | mtDNA depletion DNA helicase | Acute/neonatal | Neonatal liver failure, cirrhosis, elevated liver enzymes | Encephalopathy (athetosis, ataxia, seizures), sensory neuropathy, deafness | C10ORF2 TWINKLE sequence analysis | |
TRMU[10,11] | Decreased mito translation (tRNA-modifying enzyme); complex I, III, IV | Acute/neonatal | Neonatal liver failure; some recover, possibly with cirrhosis | TRMU sequence analysis | ||
TSFM, EFG1, EF-Tu, MRPS16[12] | Decreased mito translation (elongation) | Acute/neonatal | Liver dysfunction in infancy, hepatomegaly | Hypotonia, dystonia | Hypertrophic cardiomyopathy, tubulopathy | Sequencing individual genes, eg, TSFM or exome sequencing |
SUCLG1[13] | mtDNA depletion abnormal succinate synthesis; complex I, III, IV | Acute/neonatal | Neonatal liver failure, episodic liver failure | Hypotonia/myopathy (progressive), hearing loss | Acidosis, elevated methylmalonic acid | SUCLG1 sequence analysis |
BCS1L[14] | Complex III assembly deficiency | Acute/neonatal | Neonatal liver failure, cholestasis, hepatic iron overload | Growth failure, aminoaciduria, lactic acidosis, early death (GRACILE syndrome) | BCS1L sequence analysis | |
SCO1[15] | Complex IV deficiency | Acute/neonatal | Neonatal liver failure, hepatomegaly | Hypotonia | Acidosis | SCO1 sequence analysis |
FARS2[16] | Phenylalanyl tRNA synthetase | Acute/neonatal | Neonatal liver failure (Alpers-like) | Intractable seizures, encephalopathy | FARS2 sequence analysis on Nexgen | |
SLC25A20[17] | Carnitine acylcarnitine translocase deficiency (carnitine, FAO) | Acute/neonatal | Neonatal liver failure, steatohepatitis | Myopathy | Hypoglycemia, cardiomyopathy | SLC25A20 sequence analysis |
HADHA/LCHAD or trifunctional protein deficiency[18] | FAO defect | Acute | Hepatomegaly, fatty liver, elevated LFTs, cholestasis, liver failure, ALF | Encephalopathy, peripheral neuropathy | Acidosis, hypoglycemia, pigmentary retinopathy | HADHA sequence analysis |
CPT I deficiency[19] | Carnitine cycle FAO defect | Acute/infancy | Hepatomegaly, liver failure episodes | Reye-like episodes of encephalopathy | Hypoketotic hypoglycemia | CPTIA sequence analysis |
CPT II deficiency[19,20] | Carnitine cycle FAO defect | Acute/severe neonatal | Liver failure in infancy | Seizures | Hypoketotic hypoglycemia, cardiomyopathy, myopathy | CPT2 sequence analysis |
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