Biomaterial Database

[A patient with persistent hyperlysinemia]. 1983

R C Sengers, and J M Trijbels, and J B Corstiaensen

A 3 year old mentally retarded boy with convulsions and a disturbed motor, speech and social development is presented. A persistent hyperlysinaemia, lysinuria and saccharopinuria was found. Treatment with a diet restricted in lysine seems favourable.

UI	MeSH Term	Description	Entries
D008239	Lysine	An essential amino acid. It is often added to animal feed.	Enisyl,L-Lysine,Lysine Acetate,Lysine Hydrochloride,Acetate, Lysine,L Lysine
D008297	Male		Males
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D009122	Muscle Hypertonia	Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES.	Hypermyotonia,Muscular Hypertonicity,Hypertonia, Detrusor Muscle,Hypertonia, Infantile,Hypertonia, Neonatal,Hypertonia, Sphincter,Hypertonia, Transient,Muscle Tone Increased,Detrusor Muscle Hypertonia,Detrusor Muscle Hypertonias,Hypermyotonias,Hypertonia, Muscle,Hypertonias, Detrusor Muscle,Hypertonias, Infantile,Hypertonias, Muscle,Hypertonias, Neonatal,Hypertonias, Sphincter,Hypertonias, Transient,Hypertonicities, Muscular,Hypertonicity, Muscular,Increased, Muscle Tone,Infantile Hypertonia,Infantile Hypertonias,Muscle Hypertonia, Detrusor,Muscle Hypertonias,Muscle Hypertonias, Detrusor,Muscular Hypertonicities,Neonatal Hypertonia,Neonatal Hypertonias,Sphincter Hypertonia,Sphincter Hypertonias,Tone Increased, Muscle,Transient Hypertonia,Transient Hypertonias
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000592	Amino Acid Metabolism, Inborn Errors	Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.	Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy