Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

General Information (adopted from Orphanet):

Synonyms, Signs: LFIT
Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
Number of Symptoms 34
OrphanetNr: 217371
OMIM Id: 613070
ICD-10: K72.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Metabolic liver disease
 -Rare genetic disease
 -Rare hepatic disease
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0006554) Acute hepatic failure 20 / 7739
2
 (HPO:0000952) Jaundice 105 / 7739
3
 (HPO:0003270) Abdominal distention 46 / 7739
4
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
5
 (HPO:0002013) Vomiting 191 / 7739
6
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
7
 (HPO:0002240) Hepatomegaly 467 / 7739
8
 (HPO:0001396) Cholestasis 136 / 7739
9
 (HPO:0001414) Microvesicular hepatic steatosis 9 / 7739
10
 (HPO:0001403) Macrovesicular hepatic steatosis 7 / 7739
11
 (HPO:0011968) Feeding difficulties 240 / 7739
12
 (HPO:0003256) Abnormality of the coagulation cascade 19 / 7739
13
 (HPO:0002908) Conjugated hyperbilirubinemia 21 / 7739
14
 (HPO:0003128) Lactic acidosis 116 / 7739
15
 (HPO:0002151) Increased serum lactate 92 / 7739
16
 (HPO:0002904) Hyperbilirubinemia 32 / 7739
17
 (HPO:0200125) Mitochondrial respiratory chain defects 6 / 7739
18
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
19
 (HPO:0001252) Muscular hypotonia 990 / 7739
20
 (HPO:0010547) Muscle flaccidity 466 / 7739
21
 (HPO:0001324) Muscle weakness 859 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (OMIM) Liver biopsy during acute episode shows variable portal and sinusoidal fibrosis 1 / 7739
24
 (OMIM) Minimal inflammation 1 / 7739
25
 (OMIM) No mtDNA depletion 1 / 7739
26
 (OMIM) Decreased serum albumin 2 / 7739
27
 (OMIM) Focal ballooning of hepatocytes 1 / 7739
28
 (MedDRA:10028851) Necrosis 1 / 7739
29
 (OMIM) Oncocytic changes 2 / 7739
30
 (OMIM) Coagulopathy secondary to liver failure 1 / 7739
31
 (OMIM) Pale-gray skin 1 / 7739
32
 (OMIM) Increased alpha-fetoprotein 5 / 7739
33
 (OMIM) Proliferation of bile ductules 1 / 7739
34
 (OMIM) COX-depleted fibers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in ...
Clinical Description OMIM Lev et al. (2002) reported an infant, born of unrelated Yemenite Jewish parents, who had fulminant lactic acidosis in the neonatal period. She presented at age 9 weeks with vomiting and metabolic acidosis and was found to have ...
Molecular genetics OMIM By linkage analysis, followed by candidate gene sequencing, Zeharia et al. (2009) identified homozygous and compound heterozygous mutations in the TRMU gene (see, e.g., 610230.0002-610230.0005) in patients with infantile acute liver failure. Seven patients of Yemenite Jewish origin ...