Traits

Traits linked to GATM

glycine amidinotransferase

The Human Phenotype Ontology links 63 traits to GATM, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Abnormal urinary amino-acid findings	Always
Decreased urine guanidinoacetic acid level	Always
Elevated alkaline phosphatase	Always
Glucose in urine	Always
High urine phosphate levels	Always
Low-molecular-weight proteinuria	Always
Metabolic acidosis	Always
Reduced tissue arginine:glycine amidinotransferase activity	Always
Abnormal urine pH	Very often (80–99%)
Bicarbonate-wasting renal tubular acidosis	Very often (80–99%)
Bicarbonaturia	Very often (80–99%)
Generalized aminoaciduria	Very often (80–99%)
High urine uric acid level	Very often (80–99%)
Hyperchloremic metabolic acidosis	Very often (80–99%)
Proximal renal tubular acidosis	Very often (80–99%)
Renal phosphate wasting	Very often (80–99%)
Decreased circulating guanidinoacetic acid concentration	Often (30–79%)
Decreased CSF creatinine concentration	Often (30–79%)
Decreased serum creatinine	Often (30–79%)
Decreased urinary creatine level	Often (30–79%)
Decreased urine creatinine level	Often (30–79%)
Increased urinary potassium	Often (30–79%)
Low blood phosphate level	Often (30–79%)
Low blood potassium levels	Often (30–79%)
Low blood uric acid levels	Often (30–79%)
Reduced circulating creatine concentration	Often (30–79%)
Renal sodium wasting	Often (30–79%)
Dehydration	Sometimes (5–29%)
Elevated urine calcium levels	Sometimes (5–29%)
Low blood sugar	Rarely (1–4%)
High urine lactic acid levels	Not recorded
Organic aciduria	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Delayed ability to walk	Always
Intellectual disability	Always
Reduced brain creatine level by MRS	Always
Cognitive impairment	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Delayed speech and language development	Often (30–79%)
Simple febrile seizure	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Autism	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bone pain	Often (30–79%)
Hypophosphatemic rickets	Often (30–79%)
Increased susceptibility to fractures	Often (30–79%)
Muscle tissue disease	Often (30–79%)
Muscle weakness	Often (30–79%)
Softening of the bones	Often (30–79%)
Gowers sign	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Impaired renal tubular reabsorption of phosphate	Always
Chronic kidney disease	Often (30–79%)
Stage 5 chronic kidney disease	Sometimes (5–29%)
Abnormal function of filtrating structures in kidney	Not recorded
Renal failure	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Very often (80–99%)
Weight loss	Often (30–79%)
Faltering weight	Not recorded
Short stature	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Carnitine deficiency	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Pulmonary scarring	Rarely (1–4%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to GATM and how often each is seen. Find out more at hpo.jax.org.

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