M2C quick hits Exam 2

PKU (Phenylketonuria)

Intoxication. High phenylalanine. Intellectual disability if left untreated, hypopigmentation

MSUD (maple syrup urine disease)

Intoxication. High alloisolucine, neonatal encephalopathy

Homocystinuria

Intoxication. High homocysteine and methionine. Marfanoid body, lens dislocation, thrombosis

Tyrosinemia I

Intoxication. High succinylacetone. Liver failure, kidney disease

MCAD (medium chain aceyl coA dehydrogenase def)

Energy metabolism. High C8. Fasting induced hypoketoic hypoglycemia

VLCAD (very long chain acyl coA dehydrogenase def)

Energy metabolism. High C14. Cardiomyopathy and rhabdo

GA1 (glutaric acidemia)

Intoxication. High C5D5. Macrocephaly, basal ganglia injury

PA/MMA (propionic acidemia, methylmalonic acidemia)

Intoxication. High C3 and MMA. Neonatal metabolic crisis. PA has cardiomyopathy and MMA has kidney disease

OTC deficiency (ornithine transcarbamylase def)

Intoxication. High Orotic acid and low citrulline. Hyperammonemia, respiratory alkalosis. X-linked

Classic galactosemia

Intoxication. High G1P (galactose-1-phosphate). Neonatal liver disease

GSD I (glycogen storage disease)

Energy metabolism. High lactate, triglycerides, uric acid. Doll-like face, hepatomegaly, fasting hypoglycemia

Fabry

Complex molecules. High lyso-Gb3. Acroparesthesia, angiokeratomas, corneal whirling. X-linked

Pompe

Complex molecules. Low GAA, high urinary Hex4, Infantile hypotonia, seizures, liver dysfunction

Zellweger spectrum

Complex molecules. High VLCFA. Neonatal hypotonia, seizures, liver dysfunction

MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke like episdoes

Energy metabolism. High lactate. Stroke like episodes, neurological deterioration