Traits

Traits linked to EHHADH

enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

The Human Phenotype Ontology links 35 traits to EHHADH, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
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%)
Glucose in urine	Very often (80–99%)
High urine uric acid level	Very often (80–99%)
Hyperchloremic metabolic acidosis	Very often (80–99%)
Low-molecular-weight proteinuria	Very often (80–99%)
Proximal renal tubular acidosis	Very often (80–99%)
Renal phosphate wasting	Very often (80–99%)
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%)
Renal sodium wasting	Often (30–79%)
Dehydration	Sometimes (5–29%)
Elevated urine calcium levels	Sometimes (5–29%)
Low blood sugar	Rarely (1–4%)
Abnormal urinary amino-acid findings	Not recorded
High urine phosphate levels	Not recorded
Metabolic acidosis	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 weakness	Often (30–79%)
Softening of the bones	Often (30–79%)
Weak and soft bones	Not recorded

Growth abnormality

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

Abnormality of the genitourinary system

Trait	How often it is seen
Chronic kidney disease	Often (30–79%)
Stage 5 chronic kidney disease	Sometimes (5–29%)

Abnormal cellular phenotype

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

Abnormality of limbs

Trait	How often it is seen
Bowed legs	Not recorded

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 EHHADH and how often each is seen. Find out more at hpo.jax.org.

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