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| Genomic newborn screening: ICoNS v0.4 | ALDH7A1 |
Katrina Stone changed review comment from: Summary: classic presentation neonatal onset seizures which respond to pyridoxine but are not well controlled with antiepileptics. Later onset of seizures has been reported. Despite seizure control most patients have developmental delay/Intellectual disability Confirmatory test: alpha-aminoadipic semialdehyde (α-AASA) in urine and/or plasma (elevated) Pipecolic acid Δ1-piperideine-6-carboxylate (Δ1-P6C) Intervention: Pyridoxine for seizure control. From consensus guideline: To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy Additional information Incidence: 1:65 000 to 1:250 000 live births Onset of seizures can be outside the neonatal period Consensus guideline: PMID: 33200442 Sources: Other; to: Well established gene disease association ClinGen: strong actionability in paediatric patients Summary: classic presentation neonatal onset seizures which respond to pyridoxine but are not well controlled with antiepileptics. Later onset of seizures has been reported. Despite seizure control most patients have developmental delay/Intellectual disability Non genetic confirmatory tests: alpha-aminoadipic semialdehyde (α-AASA) in urine and/or plasma (elevated) Pipecolic acid Δ1-piperideine-6-carboxylate (Δ1-P6C) Intervention: Pyridoxine for seizure control. From consensus guideline: To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy Additional information Incidence: 1:65 000 to 1:250 000 live births Onset of seizures can be outside the neonatal period Consensus guideline: PMID: 33200442 Included in: Sources: Other |
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| Genomic newborn screening: ICoNS v0.4 | ALDH7A1 |
Katrina Stone gene: ALDH7A1 was added gene: ALDH7A1 was added to Genomic newborn screening: ICoNS. Sources: Other Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH7A1 were set to PMID: 20301659; 33200442 Phenotypes for gene: ALDH7A1 were set to Epilepsy, early-onset, 4, vitamin B6-dependent Penetrance for gene: ALDH7A1 were set to Complete Review for gene: ALDH7A1 was set to GREEN Added comment: Summary: classic presentation neonatal onset seizures which respond to pyridoxine but are not well controlled with antiepileptics. Later onset of seizures has been reported. Despite seizure control most patients have developmental delay/Intellectual disability Confirmatory test: alpha-aminoadipic semialdehyde (α-AASA) in urine and/or plasma (elevated) Pipecolic acid Δ1-piperideine-6-carboxylate (Δ1-P6C) Intervention: Pyridoxine for seizure control. From consensus guideline: To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy Additional information Incidence: 1:65 000 to 1:250 000 live births Onset of seizures can be outside the neonatal period Consensus guideline: PMID: 33200442 Sources: Other |
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