Hypervalinemia- MedGen UID:
- 120652
- •Concept ID:
- C0268573
- •
- Disease or Syndrome
Valinemia is an inborn error of metabolism characterized clinically by vomiting, feeding difficulties, hypotonia, and developmental delay, and biochemically by high concentrations of valine in serum and urine (Wada, 1965).
Proximal myopathy with extrapyramidal signs- MedGen UID:
- 816615
- •Concept ID:
- C3810285
- •
- Disease or Syndrome
Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by Logan et al., 2014). Brain MRI in 1 patient showed congenital malformations, including polymicrogyria and cerebellar dysplasia (Wilton et al., 2020).
Hypervalinemia and hyperleucine-isoleucinemia- MedGen UID:
- 1719306
- •Concept ID:
- C5394277
- •
- Disease or Syndrome
Hypervalinemia and hyperleucine-isoleucinemia (HVLI) is a branched-chain amino acid metabolic disorder characterized by highly elevated plasma valine and leucine concentrations. The patient presented in adulthood with headache and mild memory impairment, and had abnormal symmetric white matter signals on brain MRI (Wang et al., 2015).
Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2- MedGen UID:
- 1824010
- •Concept ID:
- C5774237
- •
- Disease or Syndrome
Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2) is characterized by failure to thrive apparent in infancy despite adequate caloric intake. Affected individuals show normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrate increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect (Ganetzky et al., 2022).
Genetic Heterogeneity of Hypermetabolism due to Uncoupled Mitochondrial Oxidative Phosphorylation
See also HUMOP1 (238800).