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Medium chain dicarboxylic aciduria

MedGen UID:
349718
Concept ID:
C1860081
Finding
HPO: HP:0008309

Definition

An increase in the level of medium chain dicarboxylic acid in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMedium chain dicarboxylic aciduria

Conditions with this feature

Medium-chain acyl-coenzyme A dehydrogenase deficiency
MedGen UID:
65086
Concept ID:
C0220710
Disease or Syndrome
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in mitochondrial fatty acid ß-oxidation. Fatty acid ß-oxidation fuels hepatic ketogenesis, which provides a major source of energy once hepatic glycogen stores become depleted during prolonged fasting and periods of higher energy demands. MCAD deficiency is the most common disorder of fatty acid ß-oxidation and one of the most common inborn errors of metabolism. Most children are now diagnosed through newborn screening. Clinical symptoms in a previously apparently healthy child with MCAD deficiency include hypoketotic hypoglycemia and vomiting that may progress to lethargy, seizures, and coma triggered by a common illness. Hepatomegaly and liver disease are often present during an acute episode. Children appear normal at birth and – if not identified through newborn screening – typically present between age three and 24 months, although presentation even as late as adulthood is possible. The prognosis is excellent once the diagnosis is established and frequent feedings are instituted to avoid any prolonged periods of fasting.

Professional guidelines

PubMed

Olpin SE, Manning NJ, Carpenter K, Middleton B, Pollitt RJ
J Inherit Metab Dis 1992;15(6):883-90. doi: 10.1007/BF01800227. PMID: 1293385
Duran M, De Klerk JB, Wadman SK, Bruinvis L, Ketting D
J Inherit Metab Dis 1984;7 Suppl 1:48-51. doi: 10.1007/BF03047374. PMID: 6434845

Recent clinical studies

Etiology

Tein I, Sloane AE, Donner EJ, Lehotay DC, Millington DS, Kelley RI
Pediatr Neurol 1995 Jan;12(1):21-30. doi: 10.1016/0887-8994(94)00100-g. PMID: 7748356

Diagnosis

Schaefer J, Jackson S, Taroni F, Swift P, Turnbull DM
J Neurol Neurosurg Psychiatry 1997 Feb;62(2):169-76. doi: 10.1136/jnnp.62.2.169. PMID: 9048718Free PMC Article

Therapy

Schaefer J, Jackson S, Taroni F, Swift P, Turnbull DM
J Neurol Neurosurg Psychiatry 1997 Feb;62(2):169-76. doi: 10.1136/jnnp.62.2.169. PMID: 9048718Free PMC Article
Matsuo M, Saiki K, Momota T, Ishida A, Kanazawa K, Murakami R, Nakamura H, Matsuo T
Acta Paediatr Jpn 1989 Apr;31(2):211-5. doi: 10.1111/j.1442-200x.1989.tb01291.x. PMID: 2516701
Del Valle JA, Garcia MJ, Merinero B, Pérez-Cerdá C, Roman F, Jimenez A, Ugarte M, Martínez-Pardo M, Ludeña C, Camarero C
J Inherit Metab Dis 1984;7(2):62-4. doi: 10.1007/BF01805804. PMID: 6434827

Clinical prediction guides

Del Valle JA, Garcia MJ, Merinero B, Pérez-Cerdá C, Roman F, Jimenez A, Ugarte M, Martínez-Pardo M, Ludeña C, Camarero C
J Inherit Metab Dis 1984;7(2):62-4. doi: 10.1007/BF01805804. PMID: 6434827

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