P P- P0 P1 P2 P3 P4 P5 P6 P7 P8 P9 PA PB PC PD PE PF PG PH PI PK PL PM PN PO PP PQ PR PS PT PU PV PW PX PY
PEROXISOMAL DISORDERS
[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. ( MSH )]
UMLS (ICD9CM) C0282528- Disease or Syndrome
Relation/PAR: Lipid Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic, Inborn
Relation/CHD: cerebrohepatorenal syndrome
adrenoleukodystrophy
Acatalasia
Chondrodysplasia Punctata, Rhizomelic
adrenoleukodystrophy
Acatalasia
Chondrodysplasia Punctata, Rhizomelic
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