DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C16.320.565.100] Amino Acid Metabolism, Inborn Errors Amino Acid Transport Disorders, Inborn [C16.320.565.151] Amino Acid Transport Disorders, Inborn Amyloidosis, Familial [C16.320.565.176] Amyloidosis, Familial Brain Diseases, Metabolic, Inborn [C16.320.565.189] Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors [C16.320.565.202] Carbohydrate Metabolism, Inborn Errors Cytochrome-c Oxidase Deficiency [C16.320.565.240] Cytochrome-c Oxidase Deficiency Hyperbilirubinemia, Hereditary [C16.320.565.300] Hyperbilirubinemia, Hereditary Lipid Metabolism, Inborn Errors [C16.320.565.398] Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases [C16.320.565.595] Lysosomal Storage Diseases Metal Metabolism, Inborn Errors [C16.320.565.618] Metal Metabolism, Inborn Errors Peroxisomal Disorders [C16.320.565.663] Peroxisomal Disorders Acatalasia [C16.320.565.663.050] Acatalasia Adrenoleukodystrophy [C16.320.565.663.100] Adrenoleukodystrophy Chondrodysplasia Punctata, Rhizomelic [C16.320.565.663.265] Chondrodysplasia Punctata, Rhizomelic Mevalonate Kinase Deficiency [C16.320.565.663.430] Mevalonate Kinase Deficiency Refsum Disease [C16.320.565.663.760] Refsum Disease Refsum Disease, Infantile [C16.320.565.663.865] Refsum Disease, Infantile Zellweger Syndrome [C16.320.565.663.970] Zellweger Syndrome Progeria [C16.320.565.753] Progeria Purine-Pyrimidine Metabolism, Inborn Errors [C16.320.565.798] Purine-Pyrimidine Metabolism, Inborn Errors Renal Tubular Transport, Inborn Errors [C16.320.565.893] Renal Tubular Transport, Inborn Errors Steroid Metabolism, Inborn Errors [C16.320.565.925] Steroid Metabolism, Inborn Errors DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases Metabolism, Inborn Errors [C18.452.648] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C18.452.648.100] Amino Acid Metabolism, Inborn Errors Amino Acid Transport Disorders, Inborn [C18.452.648.151] Amino Acid Transport Disorders, Inborn Amyloidosis, Familial [C18.452.648.176] Amyloidosis, Familial Brain Diseases, Metabolic, Inborn [C18.452.648.189] Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors [C18.452.648.202] Carbohydrate Metabolism, Inborn Errors Hyperbilirubinemia, Hereditary [C18.452.648.300] Hyperbilirubinemia, Hereditary Lipid Metabolism, Inborn Errors [C18.452.648.398] Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases [C18.452.648.595] Lysosomal Storage Diseases Metal Metabolism, Inborn Errors [C18.452.648.618] Metal Metabolism, Inborn Errors Peroxisomal Disorders [C18.452.648.663] Peroxisomal Disorders Acatalasia [C18.452.648.663.050] Acatalasia Adrenoleukodystrophy [C18.452.648.663.100] Adrenoleukodystrophy Chondrodysplasia Punctata, Rhizomelic [C18.452.648.663.265] Chondrodysplasia Punctata, Rhizomelic Mevalonate Kinase Deficiency [C18.452.648.663.430] Mevalonate Kinase Deficiency Refsum Disease [C18.452.648.663.760] Refsum Disease Refsum Disease, Infantile [C18.452.648.663.865] Refsum Disease, Infantile Zellweger Syndrome [C18.452.648.663.970] Zellweger Syndrome Progeria [C18.452.648.753] Progeria Purine-Pyrimidine Metabolism, Inborn Errors [C18.452.648.798] Purine-Pyrimidine Metabolism, Inborn Errors Renal Tubular Transport, Inborn Errors [C18.452.648.893] Renal Tubular Transport, Inborn Errors Steroid Metabolism, Inborn Errors [C18.452.648.925] Steroid Metabolism, Inborn Errors

Peroxisomal Disorders - Preferred

Concept UI	M0028264
Scope note	A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
Preferred term	Peroxisomal Disorders
Entry term(s)	Peroxisomal Disorder

Hyperpipecolic Acidemia - Narrower

Concept UI	M0028262
Preferred term	Hyperpipecolic Acidemia
Entry term(s)	Acidemia, Hyperpipecolic Acidemias, Hyperpipecolic Hyperpipecolatemia Hyperpipecolic Acidemias

Peroxisomal Dysfunction, Multiple - Narrower

Concept UI	M0335830
Preferred term	Peroxisomal Dysfunction, Multiple
Entry term(s)	Dysfunction, Multiple Peroxisomal Dysfunctions, Multiple Peroxisomal Multiple Peroxisomal Dysfunction Multiple Peroxisomal Dysfunctions Peroxisomal Dysfunctions, Multiple

Peroxisomal Dysfunction, Single - Narrower

Concept UI	M0335831
Preferred term	Peroxisomal Dysfunction, Single
Entry term(s)	Dysfunction, Single Peroxisomal Dysfunctions, Single Peroxisomal Peroxisomal Dysfunctions, Single Single Peroxisomal Dysfunction Single Peroxisomal Dysfunctions

Adrenoleukodystrophy, Neonatal - Narrower

Concept UI	M0028261
Preferred term	Adrenoleukodystrophy, Neonatal
Entry term(s)	Adrenoleukodystrophies, Neonatal Adrenoleukodystrophy, Autosomal Neonatal Form Adrenoleukodystrophy, Autosomal, Neonatal Form Neonatal Adrenoleukodystrophies Neonatal Adrenoleukodystrophy

Peroxisomal Dysfunction, General - Narrower

Concept UI	M0335829
Preferred term	Peroxisomal Dysfunction, General
Entry term(s)	Dysfunction, General Peroxisomal Dysfunctions, General Peroxisomal General Peroxisomal Dysfunction General Peroxisomal Dysfunctions Peroxisomal Dysfunctions, General