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Items: 5

1.

mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Mitochondrial HMG-CoA synthase deficiency (HMGCS2D) is an inherited metabolic disorder caused by a defect in the enzyme that regulates the formation of ketone bodies. Patients present with hypoketotic hypoglycemia, encephalopathy, and hepatomegaly, usually precipitated by an intercurrent infection or prolonged fasting (summary by Aledo et al., 2006). [from OMIM]

MedGen UID:
414399
Concept ID:
C2751532
Disease or Syndrome
2.

Deficiency of acetyl-CoA acetyltransferase

Alpha-methylacetoacetic aciduria, also known as 3-ketothiolase deficiency, is an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and 2-butanone. [from OMIM]

MedGen UID:
280689
Concept ID:
C1536500
Disease or Syndrome
3.

Succinyl-CoA acetoacetate transferase deficiency

Ketone bodies are major vectors of energy transfer from the liver to extrahepatic tissues and are the main source of lipid-derived energy for the brain. Mitchell et al. (1995) reviewed medical aspects of ketone body metabolism, including the differential diagnosis of abnormalities. As the first step of ketone body utilization, succinyl-CoA:3-oxoacid CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate. [from OMIM]

MedGen UID:
137979
Concept ID:
C0342792
Disease or Syndrome
4.

Acetyl-CoA acetyltransferase-2 deficiency

MedGen UID:
90995
Concept ID:
C0342735
Disease or Syndrome
5.

Deficiency of hydroxymethylglutaryl-CoA lyase

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare autosomal recessive disorder with the cardinal manifestations of metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids. Urinary levels of 3-methylcrotonylglycine may be increased. Dicarboxylic aciduria, hepatomegaly, and hyperammonemia may also be observed. Presenting clinical signs include irritability, lethargy, coma, and vomiting (summary by Gibson et al., 1988). [from OMIM]

MedGen UID:
78692
Concept ID:
C0268601
Disease or Syndrome
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