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Merlene Peter

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Articles

Homozygosity for disease‐causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia

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By Andy Drackley, Metabolism Ann, Merlene Peter, Pamela Rathbun
| Wiley Online Library Verified
1 INTRODUCTION Nonketotic hyperglycinemia (NKH) is an autosomal recessive inborn error of metabolism characterized by high levels of plasma and cerebrospinal fluid (CSF) glycine, with clinical features including lethargy, hypotonia, seizures, developmental arrest, and often early death.
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