Disease Information for Lesch-Nyhan syndrome

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Clinical Manifestations
Signs & Symptoms
Disfiguring/mutilating/scarring skin lesions
Mutilating acrodermal areas/digits/nose/ears
Mutilating/skin lesions/light exposed areas/face
Bumpy/lumpy lips congenital/sign
Athetosis
Chorea signs
Choreoathetoid movement
Choreoathetosis
Equinus Posture/Ankles
High pain threshold/infant
Indifference to pain
Lip biting
Mental Deficiency Child
Mental/motor retardation in children/signs
Movement or gait disorder/signs
Nail biting/sign
Neurological symptoms/signs
Spasticity/Spastic gait
Behavior/obsessive mannerisms
Compulsive self-mutilation
Psychomotor retardation
Self-inflicted wounds/mutilation
Wrist biting behavior
Cloudy or purulent urine
Short stature Child
Typical Clinical Presentation
Males sicker than females/characteristic
Clinical Presentation & Variations
Anemia with Low Reticulocyte Count
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Metabolic disease
Sex & Age Groups
Population/Boy patient
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Male
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Macrocytic anemia (Lab)
Macrocytosis/smear (Lab)
Abnormal Lab Findings - Decreased
Hematocrit (Lab)
Hemoglobin (Lab)
RBC/Red Blood Count (Lab)
Abnormal Lab Findings - Increased
Hypoxanthine serum level
MCV/Mean Corpuscular Volume (Lab)
Uric acid, serum (Lab)
URINE Xanthine
Diagnostic Test Results
Pathology
BX/Renal Kidney urate deposits
Associated Diseases & Rule outs
Associated Disease & Complications
Anemia
Arthritis, gouty type
Autoamputation of digit
Cerebral palsy
Cerebral spastic diplegia
Gout
Gouty nephropathy, chronic
Growth retardation/failure
Hyperuricemia
Kidney stone/Nephrolithiasis/Urolithiasis
Kidney stone/Uric acid/urates
Lesch-Nyhan syndrome
Megaloblastic anemia/disease
Mental retardation
Renal colic
Ureterolithiasis/stone in ureter
Uric acid kidney stone formation
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Xq26-q27.2
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hypoxanthine-guan/ PO4-ribotransferase
Pathophysiology/Purine/pyrimidine metabolic problem
Pathophysiology/Hypoxanthine Guanine phosphoribosyl transferase HPRT defect
Process
PROCESS/Congenital/developmental (category)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Storage disorder (ex)
PROCESS/Variant expressions/Subsets (ex)
Synonyms
Synonym
Choreoathetosis Self Mutilation Hyperuricemia Syndrome, Choreoathetosis self mutilation syndrome, Comp hypoxan guan phosribo def, COMPLETE HGPRT DEFIC DIS, Complete HGPRT deficiency, Complete HGPRT Deficiency Disease, Complete hypoxanthine guanine phosphoribosyltransferase def, Complete hypoxanthine guanine phosphoribosyltransferase deficiency, DEFIC DIS COMPLETE HGPRT, DEFIC DIS HYPOXANTHINE PHOSPHORIBOSYL TRANSFERASE, Deficiency Disease Complete HGPRT, Deficiency Disease Hypoxanthine Phosphoribosyl Transferase, Deficiency Diseases Hypoxanthine Phosphoribosyl Transferase, deficiency hypoxanthine( guanine) phosphoribosyltransferase, Deficiency of guanine phosphoribosyltransferase, Deficiency of hypoxanthine guanine phosphoribosyltransferase, Deficiency of hypoxanthine phosphoribosyltransferase, Deficiency of hypoxanthine phosphoribosyltransferase (disorder), Deficiency of IMP pyrophosphorylase, Disease Hypoxanthine Phosphoribosyl Transferase Deficiency, Disease Lesch Nyhan, Diseases Hypoxanthine Phosphoribosyl Transferase Deficiency, HEREDITARY HYPERURICEMIA, HG PRT deficiency, HG PRT deficiency syndrome, HGPRT DEFIC DIS COMPLETE, HGPRT deficiency, HGPRT Deficiency Disease Complete, HPRT Hypoxanthine guanine phosphoribosyltransferase deficiency, HPRT DEFICIENCY, HPRT DEFICIENCY COMPLETE, HPRT Hypoxa guan phosribos def, HPRT Hypoxanthine guanine phosphoribosyltransferase defic, HPRT1 DEFICIENCY, HYPERURICEMIA CHOREOATHETOSIS SELF MUTILATION SYNDROME, Hypoxan guan phosphoribosy def, hypoxanthine guanine phosphoribosyltransferase (HGPRT) deficiency, HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, hypoxanthine guanine phosphoribosyltransferase deficiency, Hypoxanthine guanine phosphoribosyltransferase deficiency ((Lesch Nyhan syndrome)), Hypoxanthine guanine phosphoribosyltransferase deficiency (disorder), Hypoxanthine guanine phosphoribosyltransferase deficiency syndrome, HYPOXANTHINE PHOSPHORIBOSYL TRANSFERASE DEFIC DIS, Hypoxanthine Phosphoribosyl Transferase Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase Deficiency Diseases, hypoxanthine phosphoribosyltransferse (HPRT) deficiency, hypoxanthine phosphoribosyltransferse deficiency, hypoxanthine( guanine) phosphoribosyltransferase deficiency, JUVENILE GOUT CHOREOATHETOSIS MENTAL RETARDATION SYNDROME, juvenile hyperuricemia syndrome, Lesch Nyhan syndrome, Lesch Nyhan, LESCH NYHAN DIS, Lesch Nyhan Disease, Lesch Nyhan Syndrome, Lesch Nyhan syndrome (disorder), Lesch Nyhan syndrome (LNS), LNS, NYHAN SYNDROME, primary hyperuricemia syndrome, Total HGPRT deficiency, Total hypoxanthine guanine phosphoribosyl transferase deficiency, X linked hyperuricaemia, X linked hyperuricemia, X linked hyperuricemia (disorder), X linked primary hyperuricemia, X linked uric aciduria enzyme defect, Synonym/Hyperuricemia/choreoathetosis/self-mutil'n, Synonym/Hyperuricemia-oligophrenia syndrome, Synonym/Juvenile gout/choreoathetosis/retardation, Synonym/Nyhan syndrome
Treatment
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition

An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures; Self-destructive behaviors such as biting of fingers and lips are seen frequently; Intellectual impairment may also occur but is typically not severe; Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis; (Menkes, Textbook of Child Neurology, 5th ed, )---------------------------------------------------------

Lesch Nyhan Syndrome; HGPRT, Absence of; HPRT, Absence of

Hereditary Hyperuricemia and Choreoathetosis Syndrome;

Hyperuricemia, Choreoathetosis, Self-multilation Syndrome;

Hyperuricemia-Oligophrenia; Hypoxanthine-Guanine Phosphoribosyltranferase Defect (Complete Absense of);

Juvenile Gout, Choreoathetosis, and Mental Retardation Syndrome; Nyhan Syndrome; Lesch-Nyhan syndrome is a rare inborn error of purine metabolism characterized by the absence or deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)

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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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