Dehydratase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA
CADH DEFICIENCY
PCBD DEFICIENCY
HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY
HPABH4D
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia due to dehydratase deficiency
Number of Symptoms 16
OrphanetNr: 1578
OMIM Id: 264070
ICD-10: E70.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 21 cases
Inheritance: Autosomal recessive
9585615 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hyperphenylalaninemia
 -Rare genetic disease
 -Rare neurologic disease

Comment:

In GTPCH, PCD (PCBD1) and PTPS-deficient patients, blood Phe normalizes (<120 μmol/L) within 4–8 h after the BH4 (tetrahydrobiopterin) challenge, but patients with DHPR deficiency only show a moderate Phe reduction (51 % of initial blood levels) during the same time period (PMID:22729819).

Symptom Information: Sort by abundance 

1
 (HPO:0003110) Abnormality of urine homeostasis 9760199 IBIS 9 / 7739
2
 (HPO:0002353) EEG abnormality 9585615 IBIS 188 / 7739
3
 (HPO:0200085) Limb tremor 9760199 IBIS 6 / 7739
4
 (HPO:0001270) Motor delay 9760199; 9585615 IBIS 322 / 7739
5
 (HPO:0001337) Tremor 9760199 IBIS 200 / 7739
6
 (HPO:0001276) Hypertonia 9760199 IBIS 317 / 7739
7
 (HPO:0008297) Transient hyperphenylalaninemia 9760199; 16423549 IBIS 4 / 7739
8
 (HPO:0004923) Hyperphenylalaninemia 9760199 IBIS 7 / 7739
9
 (HPO:0008936) Muscular hypotonia of the trunk 9585615 IBIS 77 / 7739
10
 (HPO:0001252) Muscular hypotonia 9760199; 9585615 IBIS 990 / 7739
11
 (IBIS) Decreased biopterin in urine 9760199 IBIS 1 / 7739
12
 (OMIM) Hypotonia, mild, transient 9760199 IBIS 1 / 7739
13
 (OMIM) Hypertonia, mild, transient 9760199 IBIS 1 / 7739
14
 (OMIM) Normal CSF neurotransmitters 9760199; 22729819 IBIS 1 / 7739
15
 (OMIM) Increased urinary neopterin 9760199 IBIS 1 / 7739
16
 (OMIM) Increased urinary 7-biopterin (primapterin) 9760199; 16423549 IBIS 1 / 7739

Associated genes:

PCBD1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Primapterinuria, a variant form of hyperphenylalaninemia, is characterized by excretion of 7-substituted pterins in urine (Curtius et al., 1988). Patients were reported by Dhondt et al. (1987, 1988), Blaskovics and Giudici (1988), and Blau et al. (1988). Patients ...
Molecular genetics OMIM Citron et al. (1993) identified mutations in the 4-alpha-carbinolamine dehydratase gene in a mildly hyperphenylalaninemic child who excreted large amounts of 7-biopterin (126090.0001; 126090.002). In the family reported by Citron et al. (1993), no phenotypic manifestations were evident ...