Conditions M2CE2

Alkaptonuria

Deficient Enzyme: Homogentisic Dioxygenase

Phenylketonuria

• Chronic Developmental Delay

• Eczema

• Behavioral Issues

• Seizeures

• Severe to profound intellectural disability

Phenylketonuria

Increased Phenylalanine, Decreased Tyrosine

Phenylketonuria

Treatment: Protein restricted diet with medical formula and foods

• cofaactor therapy: Kuvan

• Enzyme substitution: Pegvalise

Tyrosinemia

• Acute/chronic liver diease

• Cirrhosis

• Hepatocellular carcinoma

• neurologic crisis

• pain

• autonomic signs

• paralysis

• kidney disease

• FTT

• Vomiting

Tyrosinemia

PAA: Elevated Tyrosine

UOA: Succinylacetone

Tyrosinemia

Treatment: Protein restricted diet with medical formula an dfooods

Chronic: NTC

Liver Transplant

Maple Syrup Urine Disease

Acute Neurologic Decompensation

Maple Syrup Urine Disease

PAA: Increase Branch Chain AAs (leucine is neurotoxic, alloisoleucine

UOA: Multiple OAs

Maple Syrup Urine Disease

Acute: protein restriction calories to stop catabolism

Chronic: Protein restricted diet with medical formula and foods

Liver Transplantation

Homocystinuria

• Global DD/ID

• Tall Stature

• Dislocated Lenses

• Thromboembolic Events

Homocystinuria

Homocysteine in blood/urine

PAAA: Elevated Methionine

Homocystinuria

treatements: Low protein Diet with medical formula and foods

Betaine

Vitamins: pyridoxine, folic acid

Blood Thinner

Nonketotic Hyperglycinemia

• Progressive lethargy

• seizures

• hyppotonia

• myoclonic erks leading to apnea

• often death by one year

• severe ID and intractabe seizuress

Nonketotic Hyperglycinemia

PAA: Large amounts of glycine accumulates in body fluids

Measure glycine obtained during paired PAA and CSF AA collection

Nonketotic Hyperglycinemia

Treatments: - Lower plasma Glycine

• Dietary Restriction of glycine

• supplemental sodium benoate

• lower CSF glycine

• large doses of sodium benzoate

• dextromethorphan as a noncompetetive antagonist at the NMDA receptor

Maple Syrup Urine Disorder

deficient Enzyme: Branched Chain Alpha-ketoidacid dehyrogenase

Homocystinuria

Deficient Enzyme: cystathionine beta-synthase

Nonketotic Hyperglycinemia

Deficient Activity: glycine cleavage system

Phenylketonuria

Deficient Enzyme: Phenylalanine Hydroxylase

OTC Deficiency

Deficient Enzyme: Ornithine Transcarbamylase

OTC Deficiency

PAA: High Glutamine, Low Citrulline

UOA: Elevated Orotic Acid

OTC Deficiency

Treatment: liver transplant, low protein diet, nitrogen scaveger medicaiton, arginine, citrulline supplement

OTC Deficiency

-Neuropsycgoological complications

• developmental delay

• Learning disabilities

• Intellectual disability

• Attention Deficit/hyperactivity

• executive function deficits

Glutaric Aciduria Type 1

Deficient Enzyme: Glutaryl-coA dehydrogenase deficiency

Glutaric Aciduria Type 1

Buildup of:

• glutaric Acid

• 3-hydroxyglutaric

Glutaric Aciduria Type 1

• metabolic stroke

• progressive macrocephaly

• normal development before acute encephalopathic/stoke sepisode

• acute stoke episode

  • hypotonia

  • loss of motor skills

  • seizures

  • feeding difficulty

Glutaric Aciduria Type 1

Treatment:

• L-carnitine supplementation

• low protein/low lysine diet

• Er protocol

Propionic Acidemia

Deficient Enzyme: Propionyl-CoA Carboxylase Deficiency

Propionic Acidemia

Build up of Porpionic acid, 3-hyddroxpropionic acid, propionylcarnitine, odd chain fatty acids

Propionic Acidemia

saddle shape nose

micrognathia (smaller chin)

Risk for hyperammononemia and metabolic acidosis

Methylmalonic Acidemia

Deficient Enzyme: Mutase

Propionic Acidemia

Cobalain Disorders

Propionic Acidemia & MMA

Treatment: disetary restriction of isoleucine, methionine, threonine, and valine

L-carnitine supplementation

liver transplant or liver & kidney transplant