Internal Medicine

0521779407-17 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:19

1252 Pulmonary Valve Insufficiency (PI) Purine and Pyrimidine Disorders

Primary pulmonary insufficiency – rarely requires surgical

valve replacement

■Secondary to pulmonary artery hypertension

➣Medical or surgical therapy for primary condition

follow-up

n/a

complications and prognosis

■Primary pulmonary valve insufficiency – usually good prognosis

■Secondary to pulmonary artery hypertension or other conditions –

progress depends on the associated pathology

PURINE AND PYRIMIDINE METABOLIC DISORDERS

GREGORY M. ENNS, MD

history & physical

History:

■most disorders are autosomal recessive

■(history of parental consanguinity or affected siblings)

■Lesch-Nyhan disease (HPRT deficiency) and PRPS superactivity are

X-linked

Signs & Symptoms

■Purine Disorders

➣Lesch-Nyhan disease (hypoxanthine-guanine phosphoribosyl

transferase [HPRT] deficiency): motor delays, cerebral palsy,

self-injurious behavior, choreoathetosis, opisthotonic spasms,

increased deep tendon reflexes, nephropathy, gout, urinary tract

calculi, urinary tract infections

➣Adenine phosphoribosyl transferase (APRT) deficiency: asymp-

tomatic to renal failure, renal calculi, brownish diaper spots, crys-

talluria

➣Phosphoribosyl pyrophosphate synthetase (PRPS) superactivity:

developmental delay, ataxia, gout, renal disease, sensorineural

deafness

➣Adenylosuccinate lyase (ASL) deficiency: autism, developmental

delay, seizures, hypotonia

➣Xanthine dehydrogenase (XDH) deficiency: renal failure

(urolithiasis), muscle pain (uncommon)