Will parents want newborn screening for a condition such as hypophosphatasia that may not affect their child before the child is an adult? It is treated with asfotase alfa. Treatment for the condition is expensive. ncbi.nlm.nih.gov/books/NBK47605…
David P Bick, MD
@DavidPBick
Clinical & lab geneticist using genomics to help families find answers. Now @genomicsengland working on screening newborns for treatable genetic disorders.
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Which genetic conditions should be screened for in newborns? Hypophosphatasia is a condition resulting in easily broken bones and other problems. A severe, sometimes lethal form occurs at birth. Milder forms occur in children and adults. pubmed.ncbi.nlm.nih.gov/34884378/
pubmed.ncbi.nlm.nih.gov Hypophosphatasia - PubMed Hypophosphatasia (HPP) is an inherited metabolic disease caused by loss-of-function mutations in the tissue non-specific alkaline phosphatase (TNAP) gene. Reduced activity of TNAP leads to the... Hyperprolinemia type II due to ALDH4A1 is treated with vitamin B6 (pyridoxine). Newborn screening would allow families to prevent the seizures associated with this illness rather than wait for them to occur. pubmed.ncbi.nlm.nih.gov/34037900/
pubmed.ncbi.nlm.nih.gov Metabolic epilepsy in hyperprolinemia type II due to a novel nonsense ALDH4A1 gene variant - PubMed Hyperprolinemia type II (HPII) is a rare autosomal recessive disorder of proline degradation pathway due to deficiency of delta-1-pyrroline-5-carboxylate dehydrogenase. Pathogenic variants in the... Newborn screening finds genetic disorders needing immediate treatment. Families also find it valuable to uncover and treat conditions that appear in the first few years. For example, hyperprolinemia type II due to changes in ALDH4A1 starts months after birth, with seizures.
GOT2 deficiency is treated with vitamin B6 (pyridoxine) and the amino acid, serine. It was only recently discovered so not a lot is known about long-term outcome. pubmed.ncbi.nlm.nih.gov/33990986/
pubmed.ncbi.nlm.nih.gov Inborn disorders of the malate aspartate shuttle - PubMed Over the last few years, various inborn disorders have been reported in the malate aspartate shuttle (MAS). The MAS consists of four metabolic enzymes and two transporters, one of them having two...