3-Hydroxyisobutyric aciduria- MedGen UID:
- 90996
- •Concept ID:
- C0342737
- •
- Disease or Syndrome
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.
Succinyl-CoA acetoacetate transferase deficiency- MedGen UID:
- 137979
- •Concept ID:
- C0342792
- •
- Disease or Syndrome
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.
Deficiency of acetyl-CoA acetyltransferase- MedGen UID:
- 280689
- •Concept ID:
- C1536500
- •
- Disease or Syndrome
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.
Mitochondrial complex III deficiency nuclear type 6- MedGen UID:
- 815883
- •Concept ID:
- C3809553
- •
- Disease or Syndrome
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).