Histidinuria renal tubular defect
Overview
A very rare syndrome where a kidney defect causes high levels of histidine in the urine
Symptoms
* Mental retardation * High histidine level in urine * Myoclonic seizures * Developmental delay * Nerve deafness * Large ears * Simple ear structure * Protruding ears * Short fingers * Thick fingers * Short toes * Thick toes * Underdeveloped toenails * Broad nose bridge * Long upper lip groove * Thin upper lip * Shallow upper lip groove * Short fifth finger * Delayed bone age * Low blood sugar
Diagnosis
* Bladder & Urinary Health: Home Testing: - Home Bladder Tests - Home Urinary Tract Infection (UTI) Tests - Home Cystitis Tests - Home Kidney Tests - Home Urine Protein Tests (Kidney Function) - Home Prostate Cancer Tests * Kidney Health: Home Testing: - Home Microalbumin Tests (Kidney) - Home Urine Protein Tests (Kidney) - Home Urinary Tract Infection (UTI) Tests