An increase in the level of hippuric acid in the urine.

Positive (abnormal) result of the 2,4-dinitrophenylhydrazine urine test, which indicates the presence of alpha-ketoacids in the urine.

Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.

Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.

Abnormal accumulation of fluid in the brain.

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.

Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.

A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

Generalized muscular hypotonia (abnormally low muscle tone).

The presence of inflammation in the pancreas.

An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.

A decreased concentration of glucose in the blood.

Presence of elevated levels of ketone bodies in the body.

Abnormally increased concentration of L-alloisoleucine in the blood circulation.

Concentration of a branched chain amino acid in the blood above the upper limit of normal.

Acitivity of branched-chain alpha-keto acid dehydrogenase complex (EC 1.2.4.4) below the lower limit of normal in cultured fibroblasts.