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Hyperleucinemia

MedGen UID:
451032
Concept ID:
C0268576
Disease or Syndrome
Synonyms: High blood leucine concentration; Leucine sensitivity; Leucinosis
SNOMED CT: Leucine sensitivity (24013007); Hyperleucinemia (24013007); Leucinosis (24013007)
 
HPO: HP:0010911

Definition

An increased concentration of leucine in the blood. [from HPO]

Conditions with this feature

3-methylcrotonyl-CoA carboxylase 2 deficiency
MedGen UID:
347898
Concept ID:
C1859499
Disease or Syndrome
3-Methylcrotonylglycinuria is an autosomal recessive disorder of leucine catabolism. The clinical phenotype is highly variable, ranging from neonatal onset with severe neurologic involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. MCC activity in extracts of cultured fibroblasts of patients is usually less than 2% of control (summary by Baumgartner et al., 2001). Also see 3-methylcrotonylglycinuria I (MCC1D; 210200), caused by mutation in the alpha subunit of 3-methylcrotonyl-CoA carboxylase (MCCC1; 609010).
Maple syrup urine disease, mild variant
MedGen UID:
767489
Concept ID:
C3554575
Disease or Syndrome
The mild variant of MSUD is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of BCAA may remain elevated (summary by Oyarzabal et al., 2013). For a general description and a discussion of genetic heterogeneity of maple syrup urine disease, see 248600.
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).

Recent clinical studies

Etiology

Köstekci YE, Kendirli T, Gün E, Uçmak H, Demirtaş F, Havan M, Köse E, Okulu E, Eminoğlu FT, Erdeve Ö, Atasay B, Arsan S
Eur J Pediatr 2023 Nov;182(11):4897-4908. Epub 2023 Aug 19 doi: 10.1007/s00431-023-05162-2. PMID: 37597047
Scott AI, Cusmano-Ozog K, Enns GM, Cowan TM
Mol Genet Metab 2017 Dec;122(4):156-159. Epub 2017 Oct 5 doi: 10.1016/j.ymgme.2017.09.012. PMID: 29032949
Feier F, Schwartz IV, Benkert AR, Seda Neto J, Miura I, Chapchap P, da Fonseca EA, Vieira S, Zanotelli ML, Pinto e Vairo F, Camelo JS Jr, Margutti AV, Mazariegos GV, Puffenberger EG, Strauss KA
Mol Genet Metab 2016 Mar;117(3):336-43. Epub 2016 Jan 12 doi: 10.1016/j.ymgme.2016.01.005. PMID: 26786177
Morabito MV, Berman DE, Schneider RT, Zhang Y, Leibel RL, Small SA
Neurobiol Dis 2014 May;65:188-92. Epub 2014 Jan 14 doi: 10.1016/j.nbd.2013.12.017. PMID: 24440570Free PMC Article

Diagnosis

Scott AI, Cusmano-Ozog K, Enns GM, Cowan TM
Mol Genet Metab 2017 Dec;122(4):156-159. Epub 2017 Oct 5 doi: 10.1016/j.ymgme.2017.09.012. PMID: 29032949

Therapy

Köstekci YE, Kendirli T, Gün E, Uçmak H, Demirtaş F, Havan M, Köse E, Okulu E, Eminoğlu FT, Erdeve Ö, Atasay B, Arsan S
Eur J Pediatr 2023 Nov;182(11):4897-4908. Epub 2023 Aug 19 doi: 10.1007/s00431-023-05162-2. PMID: 37597047
Brennan JL, Keerati-U-Rai M, Yin H, Daoust J, Nonnotte E, Quinquis L, St-Denis T, Bolster DR
Nutrients 2019 Dec 6;11(12) doi: 10.3390/nu11122987. PMID: 31817691Free PMC Article
Bojsen-Møller KN, Jacobsen SH, Dirksen C, Jørgensen NB, Reitelseder S, Jensen JE, Kristiansen VB, Holst JJ, van Hall G, Madsbad S
Am J Clin Nutr 2015 Sep;102(3):600-7. Epub 2015 Aug 5 doi: 10.3945/ajcn.115.109298. PMID: 26245808

Prognosis

Feier F, Schwartz IV, Benkert AR, Seda Neto J, Miura I, Chapchap P, da Fonseca EA, Vieira S, Zanotelli ML, Pinto e Vairo F, Camelo JS Jr, Margutti AV, Mazariegos GV, Puffenberger EG, Strauss KA
Mol Genet Metab 2016 Mar;117(3):336-43. Epub 2016 Jan 12 doi: 10.1016/j.ymgme.2016.01.005. PMID: 26786177

Clinical prediction guides

Köstekci YE, Kendirli T, Gün E, Uçmak H, Demirtaş F, Havan M, Köse E, Okulu E, Eminoğlu FT, Erdeve Ö, Atasay B, Arsan S
Eur J Pediatr 2023 Nov;182(11):4897-4908. Epub 2023 Aug 19 doi: 10.1007/s00431-023-05162-2. PMID: 37597047
Billington CJ Jr, Chapman KA, Leon E, Meltzer BW, Berger SI, Olson M, Figler RA, Hoang SA, Wanxing C, Wamhoff BR, Collado MS, Cusmano-Ozog K
Am J Med Genet A 2022 Sep;188(9):2738-2749. Epub 2022 Jul 7 doi: 10.1002/ajmg.a.62893. PMID: 35799415Free PMC Article
Feier F, Schwartz IV, Benkert AR, Seda Neto J, Miura I, Chapchap P, da Fonseca EA, Vieira S, Zanotelli ML, Pinto e Vairo F, Camelo JS Jr, Margutti AV, Mazariegos GV, Puffenberger EG, Strauss KA
Mol Genet Metab 2016 Mar;117(3):336-43. Epub 2016 Jan 12 doi: 10.1016/j.ymgme.2016.01.005. PMID: 26786177

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