Living with Glutamate pyruvate transaminase 2 deficiency
A rare genetic nervous system condition with a small head, low muscle tone in infancy, and later stiffness in the legs.
Understanding Glutamate pyruvate transaminase 2 deficiency
Babies have a head that grows slowly after birth (microcephaly) and low muscle tone (hypotonia). Most then develop growing stiffness (spasticity), mainly in the legs, with spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and slurred speech. Some have seizures.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Very low muscle tone in infancy
- Stiff legs and trouble walking (spastic paraplegia)
- Intellectual disability
- Delayed or absent speech
- Global developmental delay
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in GPT2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Spastic Paraplegia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Spastic Paraplegia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Spastic Paraplegia Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GPT2 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: gpt2 deficiency; nedspm; neurodevelopmental disorder with microcephaly and spastic paraplegia; postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Glutamate pyruvate transaminase 2 deficiency.
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