# Encefalopatia neonatal por glicínica

> Página oficial: https://raras.org/doenca/encefalopatia-neonatal-por-glicinica
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 289857 — https://www.orpha.net/en/disease/detail/289857
- **CID-10**: E72.5
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A encefalopatia glicínica neonatal é uma forma frequente e geralmente grave de encefalopatia glicínica (GE), caracterizada por coma, apneia, hipotonia, convulsões e espasmos mioclônicos no período neonatal e subsequente atraso no desenvolvimento.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal recessive

## Genes associados (3)

- **GLDC** — Glycine dehydrogenase (decarboxylating), mitochondrial [Disease-causing germline mutation(s) in]
  - Função: The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remain
- **GCSH** — Glycine cleavage system H protein, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST). Has a pivotal role i
- **AMT** — Aminomethyltransferase, mitochondrial [Disease-causing germline mutation(s) (loss of function) in]
  - Função: The glycine cleavage system catalyzes the degradation of glycine

## Ensaios clínicos ativos (5)

- **NCT05687474** [COMPLETED]: Baby Detect : Genomic Newborn Screening — https://clinicaltrials.gov/study/NCT05687474
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168
- **NCT03655223** [ENROLLING_BY_INVITATION]: Early Check: Expanded Screening in Newborns — https://clinicaltrials.gov/study/NCT03655223
- **NCT05910151** [UNKNOWN]: Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan — https://clinicaltrials.gov/study/NCT05910151
- **NCT01720316** [COMPLETED]: Neurobiology of a Mutation in Glycine Metabolism in Psychotic Disorders — https://clinicaltrials.gov/study/NCT01720316

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Encefalopatia neonatal por glicínica. Disponível em: https://raras.org/doenca/encefalopatia-neonatal-por-glicinica
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