A patient with an organic academia/aciduria may present with a number of clinical findings, often starting in early childhood. A family history of similar findings in relatives or siblings may be helpful.


A patient with an organic academia may present with one of the following syndromes:

(1) an acute intoxication

(2) an acute or chronic encephalopathy

(3) serious, multisystemic disorder

(4) Reye syndrome

(5) sudden infant death syndrome (SIDS)

(6) gastric outlet obstruction (pyloric stenosis-like)


Signs and symptoms may include:

(1) ataxia

(2) cardiomyopathy with heart failure

(3) cerebrovascular abnormality (stroke-like)

(4) coma or reduced level of consicousness

(5) congenital cerebral malformations or macrocephaly

(6) dyskinesias

(7) dystonia

(8) failure to thrive

(9) hepatomegaly with or without liver failure

(10) hypotonia

(11) intraventricular hemorrhage within the brain of a newborn unexplained by hypoxemia

(12) myoclonus

(13) myopathy or rhabdomyolysis

(14) osteoporosis with bone fractures

(15) pallor from anemia

(16) pancreatitis, which may be recurrent

(17) peripheral neuropathy

(18) pronounced speech deficiency

(19) pseudotumor cerebri

(20) psychomotor deterioration, which may be progressive

(21) pyramidal signs

(22) recurrent bacterial infections

(23) refusal of feedings

(24) seizures

(25) splenomegaly

(26) tachypnea, Kussmaul type

(27) unusual odor

(28) vomiting, which may be protracted and episodic


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