Pyridoxamine 5-prime-phosphate oxidase deficiency

Preferred Label : Pyridoxamine 5-prime-phosphate oxidase deficiency;

Symbol : PNPOD;

CISMeF acronym : PNPOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pnpo deficiency; Epileptic encephalopathy, neonatal, pnpo-related; Seizures, pyridoxine-resistant, plp-sensitive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pyridoxamine 5-prime-phosphate oxidase gene (PNPO, 603287.0001);

Laboratory abnormalities : Increased blood lactate; Hypoglycemia; Normal to increased plasma glycine; Normal to increased plasma threonine; Decreased plasma arginine; Decreased CSF arginine; Increased urine vanillactic acid (VLA); Decreased CSF 5-hydroxyindoleacetic acid (5HIAA); Increased CSF glycine; Decreased CSF homovanillic acid (HVA); Increased CSF threonine; Increased CSF 3-methoxytyrosine (3-MT); Increased CSF histidine; Increased CSF taurine; Decreased CSF pyridoxal 5-prime-phosphate (PLP);

Prefixed ID : #610090;

Details

Origin ID

610090;

UMLS CUI

C1864723;

Currated CISMeF NLP mapping
- Pyridoxal 5-phosphate dependent epilepsy (disorder) [SNOMED CT concept]
- Pyridoxal phosphate-responsive seizures [ICD-11 More detail]
- Pyridoxal phosphate-responsive seizures [ORDO Disease]
- pyridoxamine 5'-phosphate oxidase deficiency [DO Concept]
- pyridoxamine 5-Prime-Phosphate oxidase deficiency [MeSH concept]
- pyridoxamine 5-Prime-Phosphate oxidase deficiency [MeSH Supplementary Concept]
DO Cross reference
- pyridoxamine 5'-phosphate oxidase deficiency [DO Concept]
Genes related to phenotype
- Pyridoxamine 5-prime-phosphate oxidase [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Hypoglycemia [HPO term]
- Increased serum lactate [HPO term]
- Metabolic acidosis [HPO term]
- Myoclonus [HPO term]
- Premature birth [HPO term]
- Progressive microcephaly [HPO term]
- Rotary nystagmus [HPO term]
- Seizure [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Pyridoxal phosphate-responsive seizures [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyridoxal 5-phosphate dependent epilepsy (disorder) [SNOMED CT concept]
- Pyridoxal phosphate-responsive seizures [ORDO Disease]
- pyridoxamine 5'-phosphate oxidase deficiency [DO Concept]
- pyridoxamine 5-Prime-Phosphate oxidase deficiency [MeSH Supplementary Concept]
- pyridoxamine 5-Prime-Phosphate oxidase deficiency [MeSH concept]

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