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Zpráva o onemocněních · Metabolic

Methylmalonic and Propionic Acidemia

Inherited organic acid disorders in which the body cannot fully break down certain amino acids and fats, leading to a build-up of toxic acids. They are included in many newborn screening programmes and are managed with diet and medical treatment.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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Všech 2 onemocnění, která analyzujeme

Methylmalonic Acidemia

Autozomálně recesivní

Caused by variants in MMUT, MMAA, MMAB, MCEE and related cobalamin-processing genes, which can cause vomiting, poor feeding, metabolic crises, developmental problems and kidney disease.

Co se diagnózou změní

Knowing allows specialist dietary management, carnitine, vitamin B12 for responsive forms and an emergency plan, which reduces the risk of crises.

Analyzované geny

Známé také jako

methylmalonic acidemia, cblA type; methylmalonic acidemia, cblB type; methylmalonic aciduria; methylmalonic aciduria cblB type; methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; methylmalonic aciduria mut type; methylmalonic aciduria type cblA; methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type; methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type; METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency; METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A; METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B

Zahrnuje 18 příbuzných podtypů ↓
  • combined malonic and methylmalonic acidemia
  • isolated methylmalonic aciduria cblD type
  • methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
  • methylmalonic acidemia due to transcobalamin receptor defect
  • methylmalonic acidemia with homocystinuria, type cblJ
  • methylmalonic acidemia with homocystinuria, type cblX
  • methylmalonic aciduria and homocystinuria
  • methylmalonic aciduria and homocystinuria type cblC
  • methylmalonic aciduria and homocystinuria type cblD
  • methylmalonic aciduria and homocystinuria type cblF
  • methylmalonic aciduria and homocystinuria, cb1L type
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • methylmalonic aciduria, cblA type
  • methylmalonic aciduria, cblB type
  • vitamin B12-responsive methylmalonic acidemia
  • vitamin B12-responsive methylmalonic acidemia, type cblDv2
  • vitamin B12-unresponsive methylmalonic acidemia type mut-
  • vitamin B12-unresponsive methylmalonic acidemia type mut0
MONDO:0002012MedGen 120654

Propionic Acidemia

Autozomálně recesivní

Caused by variants in PCCA or PCCB, which can cause metabolic crises with high ammonia, as well as heart and developmental complications.

Co se diagnózou změní

Knowing allows protein-restricted diet, carnitine and emergency care plans, and monitoring for heart complications.

Analyzované geny

Známé také jako

GLYCINEMIA, ketotic; ketotic hyperglycinemia; prop; propionic aciduria; Propionicacidemia; propionyl-CoA carboxylase deficiency

Zahrnuje 2 příbuzných podtypů ↓
  • PCCA-related propionic acidemia
  • PCCB-related propionic acidemia
MONDO:0011628OMIM 606054Orphanet 35MedGen 75694

Další metabolic conditions

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