Tyrosinemia type 3

General Information (adopted from Orphanet):

Synonyms, Signs: 4-&#64
HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY
4-&#64
HYDROXYPHENYLPYRUVATE DIOXYGENASE DEFICIENCY
Tyrosinemia type III
Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
Tyrosinemia due to HPD deficiency
Number of Symptoms 17
OrphanetNr: 69723
OMIM Id: 276710
ICD-10: E70.2
UMLs: C0268623
MeSH:
MedDRA:
Snomed: 413356003
415764005

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000
Inheritance: Autosomal recessive
11916315 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of tyrosine metabolism
 -Rare genetic disease

Comment:

Diagnostically, 4-HPPD (HPD) deficiency is associated with lower tyrosine levels than those seen in tyrosinemia, Type II. Tyrosine levels have ranged from approximately 350 to 650 microM (PMID:16602095). Normal plasma tyrosine levels range from 30 to 120 micromol/L (PMID:23036342).

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 11916315 IBIS 832 / 7739
2
 (HPO:0001315) Reduced tendon reflexes 23036342 IBIS 160 / 7739
3
 (HPO:0001250) Seizures 11916315 IBIS 1245 / 7739
4
 (HPO:0007018) Attention deficit hyperactivity disorder 11916315 IBIS 56 / 7739
5
 (HPO:0001251) Ataxia 11916315 IBIS 413 / 7739
6
 (HPO:0001256) Intellectual disability, mild 11916315 IBIS 141 / 7739
7
 (HPO:0000708) Behavioral abnormality 11916315 IBIS 212 / 7739
8
 (HPO:0001337) Tremor 11916315 IBIS 200 / 7739
9
 (HPO:0001328) Specific learning disability 11916315 IBIS 114 / 7739
10
 (HPO:0003161) 4-Hydroxyphenylpyruvic aciduria 23036342 IBIS 4 / 7739
11
 (HPO:0003231) Hypertyrosinemia 23036342 IBIS 8 / 7739
12
 (HPO:0003637) Reduced 4-Hydroxyphenylpyruvate dioxygenase activity 23036342 IBIS 3 / 7739
13
 (HPO:0003607) 4-Hydroxyphenylacetic aciduria 23036342 IBIS 3 / 7739
14
 (HPO:0001252) Muscular hypotonia 11916315 IBIS 990 / 7739
15
 (OMIM) 4-hydroxyphenyllactic aciduria 23036342 IBIS 1 / 7739
16
 (HPO:0002500) Abnormality of the cerebral white matter 11916315 IBIS 73 / 7739
17
 (OMIM) Normal liver function 16602095 IBIS 1 / 7739

Associated genes:

HPD;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine (Tomoeda et ...
Clinical Description OMIM Giardini et al. (1983) described tyrosinemia without liver dysfunction due apparently to deficiency of 4-hydroxyphenylpyruvate dioxygenase (4HPPD). The patient, a 17-month-old girl, had acute intermittent ataxia and drowsiness. Her psychomotor development was normal. Protein restriction and vitamin C ...
Molecular genetics OMIM In 3 unrelated families with tyrosinemia type III, Ruetschi et al. (2000) identified 4 presumed pathogenic mutations (2 missense and 2 nonsense) in the HPD gene (609695). Four individuals were homozygous and 1 was compound heterozygous. No correlation ...