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Specific enzyme deficiency

MedGen UID:
56197
•Concept ID:
C0149676
•
Disease or Syndrome
Synonym: Enzyme Deficiency
SNOMED CT: Specific enzyme deficiency (129456006)

Definition

A finding in which there is a subnormal amount of an enzyme. Enzymes are proteins that are necessary in certain catabolic processes. [from NCI]

Professional guidelines

PubMed

Treatment of brain disease in the mucopolysaccharidoses.
Scarpa M, Orchard PJ, Schulz A, Dickson PI, Haskins ME, Escolar ML, Giugliani R
Mol Genet Metab 2017 Dec;122S:25-34. Epub 2017 Oct 16 doi: 10.1016/j.ymgme.2017.10.007. PMID: 29153844
Newborn screening and diagnosis of mucopolysaccharidoses.
Tomatsu S, Fujii T, Fukushi M, Oguma T, Shimada T, Maeda M, Kida K, Shibata Y, Futatsumori H, Montaño AM, Mason RW, Yamaguchi S, Suzuki Y, Orii T
Mol Genet Metab 2013 Sep-Oct;110(1-2):42-53. Epub 2013 Jun 21 doi: 10.1016/j.ymgme.2013.06.007. PMID: 23860310Free PMC Article
Diagnosis and management of congenital adrenal hyperplasia.
New MI
Annu Rev Med 1998;49:311-28. doi: 10.1146/annurev.med.49.1.311. PMID: 9509266

Recent clinical studies

Etiology

Treatment of brain disease in the mucopolysaccharidoses.
Scarpa M, Orchard PJ, Schulz A, Dickson PI, Haskins ME, Escolar ML, Giugliani R
Mol Genet Metab 2017 Dec;122S:25-34. Epub 2017 Oct 16 doi: 10.1016/j.ymgme.2017.10.007. PMID: 29153844
Skeletal muscle disorders of glycogenolysis and glycolysis.
Godfrey R, Quinlivan R
Nat Rev Neurol 2016 Jul;12(7):393-402. Epub 2016 May 27 doi: 10.1038/nrneurol.2016.75. PMID: 27231184
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, Yamaguchi S
Mol Genet Metab 2008 May;94(1):61-7. Epub 2008 Mar 4 doi: 10.1016/j.ymgme.2008.01.002. PMID: 18289905
The status of hematopoietic stem cell transplantation in lysosomal storage disease.
Malatack JJ, Consolini DM, Bayever E
Pediatr Neurol 2003 Nov;29(5):391-403. doi: 10.1016/j.pediatrneurol.2003.09.003. PMID: 14684234
Fetal diagnosis of inborn errors of metabolism.
Galjaard H
Baillieres Clin Obstet Gynaecol 1987 Sep;1(3):547-67. doi: 10.1016/s0950-3552(87)80006-8. PMID: 3325206

Diagnosis

Treatment of brain disease in the mucopolysaccharidoses.
Scarpa M, Orchard PJ, Schulz A, Dickson PI, Haskins ME, Escolar ML, Giugliani R
Mol Genet Metab 2017 Dec;122S:25-34. Epub 2017 Oct 16 doi: 10.1016/j.ymgme.2017.10.007. PMID: 29153844
Skeletal muscle disorders of glycogenolysis and glycolysis.
Godfrey R, Quinlivan R
Nat Rev Neurol 2016 Jul;12(7):393-402. Epub 2016 May 27 doi: 10.1038/nrneurol.2016.75. PMID: 27231184
Newborn screening and diagnosis of mucopolysaccharidoses.
Tomatsu S, Fujii T, Fukushi M, Oguma T, Shimada T, Maeda M, Kida K, Shibata Y, Futatsumori H, Montaño AM, Mason RW, Yamaguchi S, Suzuki Y, Orii T
Mol Genet Metab 2013 Sep-Oct;110(1-2):42-53. Epub 2013 Jun 21 doi: 10.1016/j.ymgme.2013.06.007. PMID: 23860310Free PMC Article
Dual porphyrias revisited.
Poblete-Gutiérrez P, Badeloe S, Wiederholt T, Merk HF, Frank J
Exp Dermatol 2006 Sep;15(9):685-91. doi: 10.1111/j.1600-0625.2006.00464.x. PMID: 16881965
Inborn errors of adrenal steroidogenesis.
New MI
Mol Cell Endocrinol 2003 Dec 15;211(1-2):75-83. doi: 10.1016/j.mce.2003.09.013. PMID: 14656479

Therapy

Treatment of brain disease in the mucopolysaccharidoses.
Scarpa M, Orchard PJ, Schulz A, Dickson PI, Haskins ME, Escolar ML, Giugliani R
Mol Genet Metab 2017 Dec;122S:25-34. Epub 2017 Oct 16 doi: 10.1016/j.ymgme.2017.10.007. PMID: 29153844
Skeletal muscle disorders of glycogenolysis and glycolysis.
Godfrey R, Quinlivan R
Nat Rev Neurol 2016 Jul;12(7):393-402. Epub 2016 May 27 doi: 10.1038/nrneurol.2016.75. PMID: 27231184
Enhanced delivery of α-glucosidase for Pompe disease by ICAM-1-targeted nanocarriers: comparative performance of a strategy for three distinct lysosomal storage disorders.
Hsu J, Northrup L, Bhowmick T, Muro S
Nanomedicine 2012 Jul;8(5):731-9. Epub 2011 Sep 9 doi: 10.1016/j.nano.2011.08.014. PMID: 21906578Free PMC Article
The status of hematopoietic stem cell transplantation in lysosomal storage disease.
Malatack JJ, Consolini DM, Bayever E
Pediatr Neurol 2003 Nov;29(5):391-403. doi: 10.1016/j.pediatrneurol.2003.09.003. PMID: 14684234
Alternative pathway therapy for urea cycle disorders: twenty years later.
Batshaw ML, MacArthur RB, Tuchman M
J Pediatr 2001 Jan;138(1 Suppl):S46-54; discussion S54-5. doi: 10.1067/mpd.2001.111836. PMID: 11148549

Prognosis

The natural history of neurocognition in MPS disorders: A review.
Shapiro EG, Eisengart JB
Mol Genet Metab 2021 May;133(1):8-34. Epub 2021 Mar 11 doi: 10.1016/j.ymgme.2021.03.002. PMID: 33741271
Newborn screening and diagnosis of mucopolysaccharidoses.
Tomatsu S, Fujii T, Fukushi M, Oguma T, Shimada T, Maeda M, Kida K, Shibata Y, Futatsumori H, Montaño AM, Mason RW, Yamaguchi S, Suzuki Y, Orii T
Mol Genet Metab 2013 Sep-Oct;110(1-2):42-53. Epub 2013 Jun 21 doi: 10.1016/j.ymgme.2013.06.007. PMID: 23860310Free PMC Article
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, Yamaguchi S
Mol Genet Metab 2008 May;94(1):61-7. Epub 2008 Mar 4 doi: 10.1016/j.ymgme.2008.01.002. PMID: 18289905
Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase.
Percy MJ, Gillespie MJ, Savage G, Hughes AE, McMullin MF, Lappin TR
Blood 2002 Nov 15;100(10):3447-9. Epub 2002 Jul 5 doi: 10.1182/blood-2002-05-1405. PMID: 12393396

Clinical prediction guides

The natural history of neurocognition in MPS disorders: A review.
Shapiro EG, Eisengart JB
Mol Genet Metab 2021 May;133(1):8-34. Epub 2021 Mar 11 doi: 10.1016/j.ymgme.2021.03.002. PMID: 33741271
Newborn screening and diagnosis of mucopolysaccharidoses.
Tomatsu S, Fujii T, Fukushi M, Oguma T, Shimada T, Maeda M, Kida K, Shibata Y, Futatsumori H, Montaño AM, Mason RW, Yamaguchi S, Suzuki Y, Orii T
Mol Genet Metab 2013 Sep-Oct;110(1-2):42-53. Epub 2013 Jun 21 doi: 10.1016/j.ymgme.2013.06.007. PMID: 23860310Free PMC Article
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, Yamaguchi S
Mol Genet Metab 2008 May;94(1):61-7. Epub 2008 Mar 4 doi: 10.1016/j.ymgme.2008.01.002. PMID: 18289905
Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase.
Percy MJ, Gillespie MJ, Savage G, Hughes AE, McMullin MF, Lappin TR
Blood 2002 Nov 15;100(10):3447-9. Epub 2002 Jul 5 doi: 10.1182/blood-2002-05-1405. PMID: 12393396
Diagnosis and management of congenital adrenal hyperplasia.
New MI
Annu Rev Med 1998;49:311-28. doi: 10.1146/annurev.med.49.1.311. PMID: 9509266

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