Porphyria due to ALA dehydratase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: DOSS PORPHYRIA LEAD POISONING, SUSCEPTIBILITY TO, INCLUDED
PORPHOBILINOGEN SYNTHASE DEFICIENCY
DELTA-AMINOLEVULINATE DEHYDRATASE DEFICIENCY
ALAD DEFICIENCY
PORPHYRIA, ALAD
Porphyria due to ALAD deficiency
ALAD porphyria
Porphyria of Doss
Porphyria due to delta-aminolevulinate dehydratase deficiency
Number of Symptoms 31
OrphanetNr: 100924
OMIM Id: 612740
ICD-10: E80.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acute hepatic porphyria
 -Rare genetic disease
 -Rare neurologic disease
 -Rare renal disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0002027) Abdominal pain Very frequent [Orphanet] 184 / 7739
2
 (HPO:0011848) Abdominal colic 8 / 7739
3
 (HPO:0002013) Vomiting 191 / 7739
4
 (HPO:0001508) Failure to thrive 454 / 7739
5
 (HPO:0001878) Hemolytic anemia 83 / 7739
6
 (MedDRA:10036181) Porphyria 1 / 7739
7
 (HPO:0001252) Muscular hypotonia 990 / 7739
8
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
9
 (HPO:0010547) Muscle flaccidity 466 / 7739
10
 (HPO:0001324) Muscle weakness 859 / 7739
11
 (HPO:0002203) Respiratory paralysis 4 / 7739
12
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
13
 (HPO:0007178) Motor polyneuropathy 31 / 7739
14
 (HPO:0003401) Paresthesia 42 / 7739
15
 (HPO:0009830) Peripheral neuropathy 206 / 7739
16
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
17
 (HPO:0100021) Cerebral palsy Occasional [Orphanet] 36 / 7739
18
 (HPO:0003470) Paralysis 11 / 7739
19
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
20
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
21
 (HPO:0003163) Elevated urinary delta-aminolevulinic acid 4 / 7739
22
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
23
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
24
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
25
 (HPO:0008069) Neoplasm of the skin Very frequent [Orphanet] 84 / 7739
26
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
27
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
28
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
29
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
 (OMIM) Elevated urinary delta-aminolevulinic acid and porphyrins 1 / 7739
31
 (OMIM) Erythrocyte delta-aminolevulinate dehydratase (ALAD) deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) ALAD porphyria is a rare autosomal recessive disorder that has been reported and confirmed by genetic analysis in only 5 patients (Jaffe and Stith, 2007).
Clinical Description OMIM Bird et al. (1979) identified ALAD deficiency fortuitously during accumulation of control data on red cell uroporphyrinogen synthase I (HMBS; 609806). The screening assay measured conversion of ALA to porphyrin and thus included both ALAD and HMBS; specific ...
Molecular genetics OMIM In a Swedish boy with severe infantile onset of acute hepatic porphyria, Plewinska et al. (1991) identified compound heterozygosity for 2 mutations in the ALAD gene (125270.0001 and 125270.0002). ALAD activity in erythrocytes were less than 5% of ...