Pterin-4 alpha-carbinolamine dehydratase deficiency
Synonyms: Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency · Hyperphenylalaninemia with primapterinuria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pterin-4 alpha-carbinolamine dehydratase deficiency | Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency · Hyperphenylalaninemia with primapterinuria |
| fr | Déficit en 4a-hydroxy-tétrahydrobioptérine déshydratase | Hyperphénylalaninémie avec primaptérinurie · Hyperphénylalaninémie par déficit en 4a-hydroxy-tétrahydrobioptérine déshydratase · Hyperphénylalaninémie par déficit en déshydratase |
| de | Pterin-4-alpha-Carbinolamin-Dehydratase-Mangel | Hyperphenylalaninämie durch Dehydratase-Mangel · Hyperphenylalaninämie durch Pterin-4-alpha-Carbinolamin-Dehydratase-Mangel · Hyperphenylalaninämie mit Primapterinurie · Hyperphenylalaninämie mit Tetrahydrobiopterin-Mangel, D · PCD-Mangel |
| es | Deficiencia de pterin-4 alfa-carbinolamina deshidratasa | Hiperfenilalaninemia con primapterinuria · Hiperfenilalaninemia por deficiencia de deshidratasa · Hiperfenilalaninemia por deficiencia de pterin-4 alfa-carbinolamina deshidratasa |
| it | Deficit di deidratasi | Iperfenilalaninemia da deficit di pterina-4-alfa-carbinolamina deidratasi · Iperfenilalaninemia da deficit di deidratasi |
| nl | Deficiëntie van pterine-4-alfa-carbinolaminedehydratase | Hyperfenylalaninemie door deficiëntie van dehydratase · Hyperfenylalaninemie door deficiëntie van pterine-4-alfa-carbinolaminedehydratase · Hyperfenylalaninemie met primapterinurie |
| pt | Deficiência de pterina-4 alfa-carbinolamina desidratase | Hiperfenilalaninemia por deficiência de desidratase · Hiperfenilalaninemia por deficiência de pterina-4-alfa-carbinolamina desidratase · Hiperfenilaninemia com primaptenuria |
| pl | Niedobór dehydratazy karbinoloaminowej pteryny | Hiperfenylalaninemia spowodowana niedoborem dehydratazy · Hiperfenylalaninemia spowodowana niedoborem dehydratazy karbinoloaminowej pteryny |
| cs | Deficit dehydratázy | CADH deficit · Hyperfenylalaninemie s primapterinurií · PCBD deficit · Hyperfenylalaninemie způsobená deficitem dehydratázy · Hyperfenylalaninemie způsobená deficitem pterin-4-alfa-karbinolamin dehydratázy |
| uk | Дефіцит альфа-карбіноламіндегідратази птерину-4 | Гіперфенілаланінемія внаслідок дефіциту дегідратази · Гіперфенілаланінемія внаслідок дефіциту птерин-4-альфа-карбіноламіндегідратази · Гіперфенілаланінемія з примаптеринурією |
| zh | 蝶吟-4α-甲醇胺脱氢酶缺乏症 | 蝶吟-4α-甲醇胺脱氢酶缺乏所致高苯丙氨酸血症 |
| tr | Pterin-4 alfa-karbinolamin dehidrataz eksikliği | Primapterinürili hiperfenilalaninemi · Dehidrataz eksikliğine bağlı hiperfenilalaninemi · Pterin-4-alfa-karbinolamin dehidrataz eksikliğine bağlı hiperfenilalaninemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 264070 | E | validated | |
| ICD-10 | E70.1 | NTBT | attributed | validated |
| ICD-11 | 5C59.01 | NTBT | index | validated |
| MONDO | 0009908 | E | validated | |
| MeSH | C538382 | E | validated | |
| UMLS | C1849700 | E | validated | |
| GARD | 2843 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:238583Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PCBD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8646 | ENSG00000166228 | 126090 | 10q22.1 | pterin-4 alpha-carbinolamine dehydratase 1 | 9760199[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
13 annotations · validated 2020-12-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040210 | Abnormal circulating biopterin concentration | |
| HP:0004923 | Hyperphenylalaninemia | |
| Frequent (79-30%) | ||
| HP:0040206 | Abnormal circulating neopterin concentration | |
| HP:0010553 | Oculogyric crisis | |
| Occasional (29-5%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0001276 | Hypertonia | |
| HP:0002917 | Hypomagnesemia | |
| HP:0000737 | Irritability | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0100021 | Cerebral palsy | |
| HP:0004904 | Maturity-onset diabetes of the young | |
| HP:0001300 | Parkinsonism | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 19234759[PMID]_32456656[PMID]_21867484[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1578
- This record as JSON: /data/d/1578.json