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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

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Published on: August 25, 2014

Neonatal nonketotic hyperglycinemia.

Rahul P Bhamkar1, Prisca Colaco

  • 1Department of Pediatrics, MGM Medical College and Hospital, Navi, Mumbai, India.

Indian Journal of Pediatrics
|January 5, 2008
PubMed
Summary
This summary is machine-generated.

Severe neonatal nonketotic hyperglycinemia presents with immediate seizures and poor prognosis. This case highlights treatment resistance to sodium benzoate and dextromethorphan in a neonate with a high glycine index.

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Area of Science:

  • Biochemistry
  • Neonatal Medicine
  • Genetics

Background:

  • Nonketotic hyperglycinemia (NKH) is a rare inherited metabolic disorder.
  • It is characterized by glycine accumulation in body fluids.
  • NKH typically presents with severe neurological symptoms and has a poor prognosis.

Observation:

  • A severe case of neonatal nonketotic hyperglycinemia is presented.
  • The neonate experienced immediate seizures post-birth.
  • A high glycine index of 0.38 was recorded.

Findings:

  • The patient exhibited intractable seizures, hypotonia, transient hyperammonemia, and metabolic acidosis.
  • Standard treatments, including sodium benzoate and dextromethorphan, were ineffective.
  • This suggests limited therapeutic options for severe neonatal NKH.

Implications:

  • This case underscores the variable and severe presentation of neonatal NKH.
  • It highlights the challenges in managing this condition and the need for novel therapeutic strategies.
  • Further research into the pathophysiology and treatment of NKH is warranted.