PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?
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ABSTRACT:
SUBMITTER: Coman D
PROVIDER: S-EPMC5059209 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Publications
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?
Coman D D Lewindon P P Clayton P P Riney K K
JIMD reports 20150625
We report the case of a 4-year-old boy with pyridoxamine 5-phosphate oxidase deficiency, now the second reported case to develop hepatic cirrhosis. He presented with an encephalopathy in the first 1.5 h of life and received a first dose of PLP at 40 h of life. PNPO gene sequencing identified homozygosity for a novel variant in exon 7, c.637C>T (p.Pro213Ser). Persistent elevations in alanine transferase and aspartate transferase combined with an echogenic liver on ultrasound prompted performance ...[more]
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