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Zpráva o onemocněních · Metabolic

Fatty Acid Oxidation Disorders

Inherited conditions in which the body cannot properly break down fat for energy, including MCAD deficiency, primary carnitine deficiency and CPT1A and CPT2 deficiency. Problems usually appear during fasting, illness or prolonged exercise and are largely preventable once known.

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

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Všech 4 onemocnění, která analyzujeme

Disorders of Fatty Acid Oxidation and Ketogenesis

Autozomálně recesivní

A group of enzyme and transporter defects, including MCAD, VLCAD, LCHAD, SCAD and HADH deficiency, primary carnitine deficiency and carnitine-acylcarnitine translocase deficiency, that can cause low blood sugar, muscle breakdown, heart and liver problems during periods of fasting or illness.

Co se diagnózou změní

Knowing allows avoidance of prolonged fasting, an emergency plan for illness and, where relevant, carnitine or dietary fat modification, which can prevent life-threatening episodes.

Analyzované geny

Zahrnuje 19 příbuzných podtypů ↓
  • 3-hydroxy-3-methylglutaric aciduria
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
  • 3-hydroxyacyl-CoA dehydrogenase deficiency
  • acyl-CoA dehydrogenase 9 deficiency
  • acyl-CoA dehydrogenase deficiency
  • carnitine-acylcarnitine translocase deficiency
  • glutaric acidemia IIa
  • glutaric acidemia IIb
  • glutaric acidemia IIc
  • long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • long chain acyl-CoA dehydrogenase deficiency
  • medium chain acyl-CoA dehydrogenase deficiency
  • multiple acyl-CoA dehydrogenase deficiency
  • multiple acyl-CoA dehydrogenase deficiency, mild type
  • multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
  • short chain acyl-CoA dehydrogenase deficiency
  • systemic primary carnitine deficiency disease
  • transient neonatal multiple acyl-CoA dehydrogenase deficiency
  • very long chain acyl-CoA dehydrogenase deficiency
MONDO:0017713Orphanet 309115MedGen 1843280

Carnitine Palmitoyltransferase 1A Deficiency

Autozomálně recesivní

Caused by variants in CPT1A, which can cause episodes of low blood sugar and liver dysfunction in young children, typically triggered by fasting or illness.

Co se diagnózou změní

Knowing allows avoidance of fasting and prompt treatment with glucose during illness.

Analyzované geny

Známé také jako

Carnitine palmitoyl transferase 1 deficiency; Carnitine palmitoyl transferase IA deficiency; carnitine palmitoyltransferase I deficiency; cpt deficiency, hepatic, type IA; CPT1A deficiency; CPT1A disorder of carnitine cycle and carnitine transport; disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A; hepatic carnitine palmitoyl transferase 1 deficiency; hepatic carnitine palmitoyl transferase I deficiency; hepatic carnitine palmitoyltransferase 1 deficiency; hepatic CPT1; L-CPT 1 deficiency; L-CPT1 deficiency; L-CPTI deficiency

MONDO:0009705OMIM 255120Orphanet 156MedGen 316820

Carnitine Palmitoyltransferase II Deficiency

Autozomálně recesivní

Caused by variants in CPT2; the common adult form causes episodes of muscle pain and muscle breakdown (rhabdomyolysis) after prolonged exercise, fasting, cold or illness, while rare infantile forms are severe.

Co se diagnózou změní

Knowing helps avoid triggers, guides safe exercise and fasting habits, and supports fast treatment of muscle breakdown to protect the kidneys.

Analyzované geny

Známé také jako

Carnitine palmitoyltransferase 2 deficiency; Carnitine palmitoyltransferase deficiency type 2; Carnitine palmitoyltransferase II (CPT II) deficiency; CPT II deficiency; CPT2; CPTII

Zahrnuje 3 příbuzných podtypů ↓
  • carnitine palmitoyl transferase II deficiency, myopathic form
  • carnitine palmitoyl transferase II deficiency, neonatal form
  • carnitine palmitoyl transferase II deficiency, severe infantile form
MONDO:0015515Orphanet 157MedGen 137978

Mitochondrial Trifunctional Protein Deficiency

Autozomálně recesivní

Caused by variants in HADHA or HADHB, which can cause low blood sugar, heart and liver problems, muscle breakdown, and later nerve damage.

Co se diagnózou změní

Knowing allows a low long-chain-fat diet with medium-chain fat supplements and an emergency plan for illness.

Analyzované geny

Známé také jako

MTPD; TFP deficiency; TFPD

Zahrnuje 2 příbuzných podtypů ↓
  • mitochondrial trifunctional protein deficiency 1
  • mitochondrial trifunctional protein deficiency 2
MONDO:0012172Orphanet 746MedGen 370665

Další metabolic conditions

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Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

Od 449 $

Doprava zdarma · Výsledky za 6–8 týdnů

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