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

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

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

Disease definition

A very rare mitochondrial respiratory chain deficiency characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.

ORPHA:217371

Classification level: Disorder

Synonym(s):
- Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: K72.0
OMIM: 613070
UMLS: -
MeSH: -
GARD: -
MedDRA: -

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)

Topic of your comment *

Your message *

Attention

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

ORPHA:217371

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services