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Participant 035

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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


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 participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant
Autosomal dominant

If this participant sounds like you or someone you know, please contact us!


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