| Phenylketonuria (PKU) |
Phenylalanine hydroxylase |
Musty body odor, intellectual disability, seizures, pale skin, eczema |
Pale kids with Krappy Urine |
| Alkaptonuria |
Homogentisic acid oxidase |
Black urine, ochronosis (bluish-black pigmentation in connective tissues), arthritis |
Black CAP: Cartilage, Arthritis, Pigmentation |
| Maple Syrup Urine Disease (MSUD) |
Branched-chain α-ketoacid dehydrogenase |
Sweet-smelling urine, poor feeding, vomiting, lethargy, developmental delays |
I LoVe Maple Syrup: Isoleucine, Leucine, Valine |
| Homocystinuria |
Cystathionine β-synthase |
Lens dislocation, marfanoid habitus, intellectual disability, thromboembolism |
HOMOCY: Homocysteine in urine, Osteoporosis, Marfanoid, Ocular issues, CV risk, Younger thrombus |
| Tyrosinemia Type I |
Fumarylacetoacetate hydrolase |
Liver and kidney failure, cabbage-like odor, failure to thrive |
Tyrosine in liver is toxic |
| Cystinuria |
Defective renal reabsorption of cystine |
Recurrent kidney stones (cystine crystals) |
COLA: Cystine, Ornithine, Lysine, Arginine |
| Argininosuccinic Aciduria |
Argininosuccinate lyase |
Hyperammonemia, lethargy, seizures, growth delays |
Arginine Stops (succinate) ammonia buildup |
| Ornithine Transcarbamylase (OTC) Deficiency |
Ornithine transcarbamylase |
Hyperammonemia, orotic acid in urine, lethargy, vomiting, confusion |
OTC: Orotic acid, Toxic ammonia, Confusion |
| Hartnup Disease |
Defective neutral amino acid transporter |
Photosensitivity, ataxia, rash resembling pellagra (niacin deficiency due to tryptophan loss) |
HART: High-light sensitive, Ataxia, Rash, Tryptophan loss |
| Primary Hyperoxaluria |
Glyoxylate aminotransferase |
Recurrent calcium oxalate kidney stones, renal failure, systemic oxalosis |
OX: Excess oxalate leads to Systemic Oxalosis |
