Biomaterial Database

[Modern trends in inborn errors of metabolism (reports) (author's transl)]. 1971

H Bickel, and G Molz

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007408	Intestinal Absorption	Uptake of substances through the lining of the INTESTINES.	Absorption, Intestinal
D007674	Kidney Diseases	Pathological processes of the KIDNEY or its component tissues.	Disease, Kidney,Diseases, Kidney,Kidney Disease
D008297	Male		Males
D008375	Maple Syrup Urine Disease	An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)	Branched-Chain Ketoaciduria,Thiamine Responsive Maple Syrup Urine Disease,BCKD Deficiency,Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency,Classic Maple Syrup Urine Disease,Classical Maple Syrup Urine Disease,Intermediate Maple Syrup Urine Disease,Intermittent Maple Syrup Urine Disease,Keto Acid Decarboxylase Deficiency,MSUD (Maple Syrup Urine Disease),Maple Syrup Urine Disease, Classic,Maple Syrup Urine Disease, Classical,Maple Syrup Urine Disease, Intermediate,Maple Syrup Urine Disease, Intermittent,Maple Syrup Urine Disease, Thiamine Responsive,Maple Syrup Urine Disease, Thiamine-Responsive,Branched Chain Ketoaciduria,Branched Chain alpha Keto Acid Dehydrogenase Deficiency,Branched-Chain Ketoacidurias,Ketoaciduria, Branched-Chain,Ketoacidurias, Branched-Chain
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
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children