Biochemical Genetics Conditions and Treatments

There are hundreds of inherited (genetic) metabolic disorders, which affect the way the body breaks down nutrients and produces energy. Collectively, they are somewhat common, affecting 1 in 8,000 individuals, but separately, each is rare. We diagnose and treat all known metabolic disorders, including the rarest. We also help to identify new, undiagnosed disorders.

Metabolic disorders have varying symptoms, and no two are exactly alike. Some people have no symptoms. Some symptoms of metabolic disorders include, but are not limited to, hypoglycemia (low blood sugar that results in shakiness, sweating, lightheadedness, etc.), metabolic acidosis (too much acid, which can cause breathing difficulties, fatigue, confusion, etc.), poor weight gain, or failure to thrive.

Since we cannot list all of the metabolic disorders that we diagnose (for children) and treat, we have provided a few of the most common under each category:

Primary mitochondrial disorders

  • MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes)
  • CPEO (chronic progressive external ophthalmoplegia)
  • Leigh syndrome

Amino acid disorders

  • PKU (phenylketonuria)
  • Maple syrup urine disease (MSUD)

Fatty acid oxidation disorders

  • MCAD (medium-chain acyl-CoA dehydrogenase deficiency)
  • Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Urea cycle disorders

  • OTC (ornithine transcarbamylase)
  • Argininosuccinate lyase (ASL) deficiency
  • Citrullinemia type I (ASS deficiency)

Lysosomal storage disorders

  • Gaucher disease
  • MPS (mucopolysaccharidoses)
  • Fabry disease

Organic acid disorders

  • MMA (methylmalonic acidemia)
  • PA (propionic acidemia)
  • IVA (isovaleric acidemia)

Peroxisomal disorders

  • X-ALD (X-linked adrenoleukodystrophy)
  • ZSD (Zellweger spectrum disorders)

Treatments

We provide knowledge and counseling on what to expect for your/your child’s genetic condition. With certain metabolic disorders, we are able to improve health with a change in diet, a medication, or supplements. Our lifelong care also includes supporting the whole person and family, including access to a social worker who helps promote emotional well-being and provide resources. We partner with various specialized programs within Stanford Children’s to provide you/your child with advanced care, including Fetal and Pregnancy Health experts and pediatric transplant specialists, neurologists, and hepatologists.