| PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (PNPO) | |
| PNPO; SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE | |
|
610090
OMIM = Online Mendelian Inheritance of Men | |
|
79096 | |
| pyridoxamine 5-prime-phosphate oxidase | |
| 1.4.3.5 | |
| rare autosomal recessive mutation in the PNPO gene | |
| Laboratory findings | 5-Hydroxyindolacetic acid (5-HIAA) dec (cerebrospinal fluid) D-Glucose normal/dec (plasma) Pyridoxal 5-prime-phosphate (PLP) dec (cerebrospinal fluid) Vanillic acid inc (urine) Homovanillic acid (HVA) dec (cerebrospinal fluid) L-Threonine normal/inc (plasma) L-Threonine normal/inc (cerebrospinal fluid) Vanillactic acid n/i (urine) Arginine dec (cerebrospinal fluid) Glycine inc (plasma) Glycine inc (cerebrospinal fluid) L-Histidine inc (cerebrospinal fluid) L-Lactic acid normal/inc (blood) Phosphatase, alkaline normal/inc (serum) Taurine inc (cerebrospinal fluid) |
| Symptoms | hypoglycemia developmental delay dystonia EEG abnormalities [-] epilepsy hypotonia low APGAR Score microcephaly (<2 SD for age) prematurity, premature delivery seizures anemia cirrhosis or fibrosis of liver encephalopathy eye movements, abnormal failure to thrive feeding difficulties, poor feeding hypertonia, spasticity metabolic acidosis MRI, brain, abnormalities [-] myoclonus onset, neonatal retinopathy vomiting |