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Participant 035


MGA & TRA2B

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Male, age 4 with a history of infantile spasms and an undiagnosed metabolic disorder (elevated alanine and lactate)

Date of Report

Sep 11, 2017

Description

The patient met all of his milestones until the age of 4 months when he stopped progressing. At 5 months, he began to have infantile spasms and high levels of alanine and lactate were found in his blood (hyperalaninemia and increased serum lactate). The spasms stopped a few months later after starting a second round of ACTH therapy. His lactate and alanine levels are well controlled on a low carbohydrate, high fat diet.

The patient started walking at 18 months of age and had some trouble speaking (speech apraxia). He has been making progress over time and is a very social boy.

Symptoms / Signs
  • Global developmental delay
  • Motor delay
  • Delayed speech and language development
  • Difficulty speaking (speech apraxia)
  • Sensory impairment
  • Infantile spasms
  • Low muscle tone (generalized hypotonia)
  • Acid accumulation in the body (metabolic acidosis)
  • Elevated levels of alanine in the blood (hyperalaninemia)
  • Elevated levels of pyruvate in the blood (increased serum pyruvate)
  • Elevated levels of lactate in the blood (increased serum lactate)
  • Eyes turned outward (exotropia)
  • Smaller amount of tooth enamel (hypoplasia of dental enamel)
  • Feeding difficulties
  • Curved pinky finger (clinodactyly of the 5th finger)
  • Flat feet (pes planus)
Current Treatments
  • Coenzyme Q10- suspected mitochondrial condition
  • Cytra K Packets- metabolic acidosis
  • DHA/Omega 3- fat supplement
  • Levocarnitine- suspected mitochondrial condition
  • Liquigen- high fat supplement
  • Low carbohydrate, high fat diet- elevated alanine and lactate
Prior Treatments
  • Ketogenic diet- infantile spasms
  • ACTH- infantile spasms
Considered treatments
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
  • Mitochondrial condition
  • Pyruvate dehydrogenase deficiency
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the patient’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
MGA
Autosomal dominant
Chr15:42058262
NM_01164273.1
c.7982G>T
p.Gly2661Val
Autosomal dominant
Chr3:185655630
NM_004593.2
c.19C>T
p.Gln7Ter
Contact

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