Table 3.

Medium-Chain Acyl-Co A Dehydrogenase Deficiency: Recommended Evaluations Following Initial Diagnosis

EvaluationComment
Consultation w/metabolic physician / biochemical geneticist & specialist metabolic dietitian 1 In a symptomatic individual, consider obtaining the following additional laboratory studies, where clinically appropriate:
  • Blood glucose concentration
  • Liver function tests (i.e., AST, ALT, alkaline phosphatase, prothrombin time, partial thromboplastin time, total bilirubin, albumin)
  • Blood gas analysis
  • Ammonia concentration (collected in a sodium-heparin tube, placed on ice immediately, & sent STAT to lab on ice)
  • Lactic acid concentration
  • CBC w/differential
  • Electrolytes
  • Blood culture (in case of fever)
In an asymptomatic individual:
  • Laboratory testing or imaging is obtained as clinically indicated.
  • Free and total carnitine level are checked routinely in some but not all practices.
Developmental/neurobehavioral assessment
  • Consider referral to developmental pediatrician, depending on age & current developmental achievement.
  • For persons age >12 mos: screening for concerns incl ADHD if there is history of recurrent metabolic decompensations or severe hypoglycemic episodes
Assessment for muscle weakness Consider referral for PT if present.
Consultation w/psychologist &/or social worker To ensure understanding of diagnosis & assess parental / affected person's coping skills & resources
Genetic counseling by genetics professionals 2 To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of MCAD deficiency to facilitate medical & personal decision making

ADHD = attention-deficit/hyperactivity disorder; ALT = alanine transaminase; AST = aspartate transaminase; CBC = complete blood count; MCAD = medium-chain acyl-coenzyme A dehydrogenase; MOI = mode of inheritance; PT = physical therapy; STAT = short turnaround time

1.

After a new diagnosis of MCAD deficiency in an infant or child, the closest hospital and local pediatrician should also be informed.

2.

Clinical geneticist and/or clinical biochemical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

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