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GPT2 Deficiency is caused by loss-of-function variants (mutations) in the GPT2 gene. Loss-of-function mutations reduce the capacity of important enzymes and proteins to carry out normal operation, sometimes with total inactivation. GPT2 Deficiency affects enzymes that play a critical role in neuronal growth and brain development.

The GPT2 gene codes for the important mitochondrial enzyme glutamate pyruvate transaminase 2 (GPT2). This enzyme is responsible for the regulation of important metabolic processes, such as amino acid metabolism and the TCA (tricarboxylic acid) cycle, and is also responsible for encoding a mitochondrial alanine transaminase.

GPT2 Deficiency seems to affect males and females equally. Individuals with this disease are from a variety of countries across the globe and from many different ethnic backgrounds.

GPT2 Deficiency may appear in a differential diagnosis with other disorders that may be defined by intellectual and developmental disability, postnatal microcephaly and spastic paraplegia. This includes a number of different genetic forms of intellectual disability or complex spastic paraplegias.