Synonym(s): (no synonyms)
Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare renal disease - Rare skin disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See 1 MeSH reference: D017118
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
HMBS	P08397	609806

- Abnormal colour of the urine / cholic / dark urines
- Acute abdominal pain / colic
- Anorexia
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Insomnia
- Muscle weakness / flaccidity
- Myalgia / muscular pain
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus

- Acute arterial hypertension / hypertensive crisis
- Cardiac rhythm disorder / arrhythmia
- Constipation
- Hyperhidrosis / increased sweating
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness

- Articular / joint pain / arthralgia
- Cranial nerves palsy
- Delirium / hallucination
- Diaphragmatic palsy
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Hyponatremia
- Obnubilation / coma / lethargia / desorientation
- Renal failure
- Weight loss / loss of appetite / break in weight curve / general health alteration