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Items: 5

1.

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
2.

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
3.

Mitochondrial complex III deficiency nuclear type 6

Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by Gaignard et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000). [from OMIM]

MedGen UID:
815883
Concept ID:
C3809553
Disease or Syndrome
4.

3-Hydroxyisobutyric aciduria

A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described. [from ORDO]

MedGen UID:
90996
Concept ID:
C0342737
Disease or Syndrome
5.

Episodic ketoacidosis

Intermittent episodes of ketoacidosis. [from HPO]

MedGen UID:
349256
Concept ID:
C1859860
Finding
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