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Isovaleryl-CoA dehydrogenase deficiency(IVA)

MedGen UID:
82822
Concept ID:
C0268575
Disease or Syndrome
Synonyms: Isovaleric acid CoA dehydrogenase deficiency; Isovaleric acidemia; Isovaleryl CoA carboxylase deficiency; IVA; IVD deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Isovaleric acid-CoA dehydrogenase deficiency (87827003); Isovaleryl-CoA dehydrogenase deficiency (87827003); Isovaleric acidemia (87827003); Isovaleric acid CoA dehydrogenase deficiency (87827003); Isovaleryl-coenzyme A dehydrogenase deficiency (87827003)
 
Gene (location): IVD (15q15.1)
OMIM®: 243500
Orphanet: ORPHA33

Definition

Isovaleric acidemia is an inborn error of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase. It can present with severe neonatal ketoacidosis leading to death, but in milder cases recurrent episodes of ketoacidosis of varying degree occur later in infancy and childhood (summary by Vockley et al., 1991). [from OMIM]

Additional description

From GHR
Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with isovaleric acidemia have inadequate levels of an enzyme that helps break down a particular amino acid called leucine.Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals.In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods.Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition.  https://ghr.nlm.nih.gov/condition/isovaleric-acidemia

Clinical features

Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Leukopenia
MedGen UID:
6073
Concept ID:
C0023530
Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Hyperglycinuria
MedGen UID:
107456
Concept ID:
C0543541
Disease or Syndrome
The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG; 242600), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008). A phenotype of combined glucosuria and glycinuria has been described (see 138070).

Recent clinical studies

Etiology

Wei CC, Lin WD, Tsai FJ, Wu JY, Peng CT, Tsai CH
Acta Paediatr Taiwan 2004 Jul-Aug;45(4):236-8. PMID: 15624372

Diagnosis

Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S453-6. Epub 2008 Dec 16 doi: 10.1007/s10545-008-1039-y. PMID: 19089597
Wei CC, Lin WD, Tsai FJ, Wu JY, Peng CT, Tsai CH
Acta Paediatr Taiwan 2004 Jul-Aug;45(4):236-8. PMID: 15624372
Gibson KM, Lee CF, Hoffmann GF
Eur J Pediatr 1994;153(7 Suppl 1):S62-7. PMID: 7957389
Gregersen N
Scand J Clin Lab Invest Suppl 1985;174:1-60. PMID: 3892650

Therapy

Wei CC, Lin WD, Tsai FJ, Wu JY, Peng CT, Tsai CH
Acta Paediatr Taiwan 2004 Jul-Aug;45(4):236-8. PMID: 15624372

Prognosis

Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S453-6. Epub 2008 Dec 16 doi: 10.1007/s10545-008-1039-y. PMID: 19089597

Clinical prediction guides

Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S453-6. Epub 2008 Dec 16 doi: 10.1007/s10545-008-1039-y. PMID: 19089597
Rhead WJ, Tanaka K
Proc Natl Acad Sci U S A 1980 Jan;77(1):580-3. PMID: 6928646Free PMC Article

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