Diseases of the nervous system
Episodic and paroxysmal disorders
Autosomal recessive
17q21.32
PNPOD is an autosomal recessive inborn error of metabolism resulting in vitamin B6 deficiency that manifests as neonatal-onset severe seizures and subsequent encephalopathy. Patients with PNPO mutations tend to respond better to treatment with pyridoxal 5-prime phosphate (PLP) than with pyridoxine. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610090.1.1 | United Arab Emirates | Female | Yes | Seizure; Global developmental delay; Beh... Seizure; Global developmental delay; Behavioral abnormality  | NM_018129.4:c.674G>T | Homozygous | Autosomal, Recessive | Fathalla et al. 2018 | ||
| 610090.1.2 | United Arab Emirates | Female | Yes | Seizure; Global developmental delay; Beh... Seizure; Global developmental delay; Behavioral abnormality | NM_018129.4:c.674G>T | Homozygous | Autosomal, Recessive | Fathalla et al. 2018 | Sister of 610090.1.1 | |
| 610090.2 | United Arab Emirates | Male | Yes | Seizure Seizure | NM_018129.4:c.674G>T | Homozygous | Autosomal, Recessive | Fathalla et al. 2018 | Patient had a brothe... | |
| 610090.3 | United Arab Emirates | Male | Yes | Seizure; Global developmental delay Seizure; Global developmental delay | NM_018129.4:c.674G>T | Homozygous | Autosomal, Recessive | Fathalla et al. 2018 | Belongs to the same ... | |
| 610090.4 | United Arab Emirates | Female | Yes | Seizure; Infantile spasms Seizure; Infantile spasms | NM_018129.4:c.674G>T | Homozygous | Autosomal, Recessive | Fathalla et al. 2018 | Belongs to the same ... |
Fathalla et al. (2018) described a male Emirati patient with neonatal onset of seizures and mild developmental delay. While he was found to carry a homozygous mutation in the PNPO gene, details of the variant were unavailable. The patient belonged to a separate Emirati tribe than the 6 patients outlined in the table above.