(a recessive genetic metabolic disorder)

См. также в других словарях:

• metabolic disease — ▪ pathology Introduction       any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… …   Universalium

• genetic disease, human — Introduction       any of the diseases and disorders that are caused by mutations in one or more genes (gene).       With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization …   Universalium

• congenital disorder — Structural abnormality (e.g., atresia, agenesis), functional problem (e.g., cystic fibrosis, phenylketonuria), or disease present at birth. Almost all are due to genetic factors (inherited or spontaneous mutations, chromosomal disorders),… …   Universalium

• childhood disease and disorder — Introduction       any illness, impairment, or abnormal condition that affects primarily infants and children i.e., those in the age span that begins with the fetus and extends through adolescence.       Childhood is a period typified by change,… …   Universalium

• Congenital disorder — Classification and external resources MeSH D009358 …   Wikipedia

• Congenital disorder of glycosylation — Congenital disorders of glycosylation Classification and external resources ICD 10 E77.8 ICD 9 271.8 …   Wikipedia

• Adenosine Monophosphate Deaminase Deficiency type 1 — Classification and external resources Adenosine monophosphate OMIM 102770 …   Wikipedia

• Myoadenylate deaminase deficiency — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 102770 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Myoadenylate deaminase deficiency (MADD) is a recessive genetic metabolic disorder that affects… …   Wikipedia

• Maple syrup urine disease — Classification and external resources Isoleucine (pictured above), leucine, and valine are the branched chain amino acids that build up in MSUD. ICD …   Wikipedia

• Methylmalonic acidemia — Classification and external resources Methylmalonic acid ICD 10 E …   Wikipedia

• Dihydropyrimidine dehydrogenase deficiency — Classification and external resources OMIM 274270 DiseasesDB 29817 MeSH …   Wikipedia