Alkaptonuria

Category: generalpediatrics-Metabolic Disorders

Findings: black urine, elevated homogentisic levels

Notes: Defect in both phenylalanine and tyrosine metabolism. Homogentisic can build up in heart valves and joints.

Fabry Disease

Category: generalpediatrics-Metabolic Disorders

Findings: eye opacities, vascular problems in heart-kidney-brain, angiokeratomas

Familial Hypercholesterolemia

Category: generalpediatrics-Metabolic Disorders

Findings: tenosynovitis in teens, angina or coronary artery disease in 20s

Notes: Very elevated serum cholesterol above 500

Galactosemia

Category: generalpediatrics-Metabolic Disorders

Findings: hypoglycemia, lethargy, seizures, jaundice, vomiting, E. coli sepsis, cataracts

Notes: Due to inability to break down galactose-1-phosphate. If untreated, may result in liver disease and intellectual problems. Treat by avoiding lactose in breastmilk or cow milk and replacing with soymilk.

Question: What fits these findings?

Gaucher Disease

Category: generalpediatrics-Metabolic Disorders

Findings: lytic lesions in bone, hepatomegaly, thrombocytopenia, osteosclerosis, short stature

Notes: Most common lysosomal storage disease. Does not affect CNS.

Question: What fits these findings?

Hereditary Fructose Intolerance

Category: generalpediatrics-Metabolic Disorders

Findings: vomiting-seizures-hypoglycemia-hepatomegaly-jaundice after consuming a meal high in fructose or sucrose

Notes: Treat with low fructose diet

Homocystinuria

Category: generalpediatrics-Metabolic Disorders

Findings: downwards displaced lens, cognitive problems, history of DVTs, treated with pyridoxine and diet low in methionine and high in cysteine

Notes: Problem in pathway converting homocysteine to cysteine. Comparable to Marfans but with cognitive issues and downwards displaced lens.

Hunter Syndrome

Category: generalpediatrics-Metabolic Disorders

Findings: coarse facial features, growth deceleration, skeletal abnormalities, X-linked, no corneal clouding

Notes: Type 2 mucopolysaccharidosis. X-linked recessive.

Question: What fits these findings?

Hurler Syndrome

Category: generalpediatrics-Metabolic Disorders

Findings: corneal clouding, coarse facial features, obstructive sleep apnea, macrocephaly, hepatosplenomegaly, high arched foot, growth deceleration after age one, atlantoaxial subluxation

Notes: Type 1 mucopolysaccharidosis

Question: What fits these findings?

Isovaleric Acidemia

Category: generalpediatrics-Metabolic Disorders

Findings: seizure, sweaty feet smell, poor feeding or vomiting, lethargic, recurrent infections, metabolic acidosis, lack of lactic acidosis, ketosis, treated with protein restriction

Question: What fits these findings?

Lesch-Nyhan Syndrome

Category: generalpediatrics-Metabolic Disorders

Findings: self-mutilation, kidney stones, gout, neurologic defects

Notes: Due to absence of hypoxanthine guanine phosphoribosyl transferase (HGPRT) which recycles hypoxanthine and guanine into nucleotides.

Maple Syrup Urine Disease

Category: generalpediatrics-Metabolic Disorders

Findings: hyperammonemia, tachypnea, ketoacidosis, hypoglycemia, sweet-smelling urine, high levels of valine-isoleucine-leucine, may cause encephalopathy and seizures if not treated within first 2 weeks of life

Notes: Treat by avoiding branched amino acids in diet.

McArdle Disease

Category: generalpediatrics-Metabolic Disorders

Findings: muscle cramping, red-colored urine, elevated CPK and ammonia

Notes: Type 5 glycogen storage disease

Question: What fits these findings after exercise?

Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

Category: generalpediatrics-Metabolic Disorders

Findings: fasting hypoglycemia and lethargy, no ketosis, elevated liver enzymes

Notes: Most common beta oxidation or fatty acid oxidation defect, seen usually in first two years of life.

Niemann-Pick Disease

Category: generalpediatrics-Metabolic Disorders

Findings: neurological abnormalities, hepatosplenomegaly, sphingomyelin in liver and lungs, cherry red spot on macula

Notes: Due to sphingomyelinase deficiency

Ornithine Transcarbamylase Deficiency

Category: generalpediatrics-Metabolic Disorders

Findings: hypotonia, vomiting, hyperammonemia, respiratory alkalosis, no ketosis, no lactic acidosis, low citrulline and arginine, high urine orotic acid, treated with protein restriction

Notes: X-linked

Phenylketonuria (PKU)

Category: generalpediatrics-Metabolic Disorders

Findings: musty odor, light-colored skin, potential intellectual disability

Notes: Defect in converting phenylalanine to tyrosine. Treat with low phenylalanine diet and tyrosine supplementation.

Question: What fits these findings?

Pompe Disease

Category: generalpediatrics-Metabolic Disorders

Findings: hypotonia, macroglossia, hepatomegaly, cardiomegaly, elevated CK, left axis deviation on EKG, lysosomal disease, normoglycemia

Notes: Glycogen storage disease type 2. Glycogen can be broken down outside of lysosomes, so there is no hypoglycemia

Question: What fits these findings?

Propionic Acidemia

Category: generalpediatrics-Metabolic Disorders

Findings: vomiting, hypotonia, tachypnea, hypoglycemia, lactic acidosis, hyperammonemia, ketosis, treated with biotin

Propionic Acidemia

Category: generalpediatrics-Metabolic Disorders

Findings: ketoacidosis, encephalopathy, hyperammonemia, vomiting, pancreatitis, recurrent infections, bone marrow suppression, cardiomyopathy

Smith-Lemli-Opitz Syndrome

Category: generalpediatrics-Metabolic Disorders

Findings: cognitive deficits, microcephaly, toe syndactyl, elevated 7-dehydrocholesterol

Tay-Sachs Disease

Category: generalpediatrics-Metabolic Disorders

Findings: macrocephaly, cherry red spot on retina, progressive neurological abnormalities, exaggerated startle reflex, no hepatosplenomegaly.

Notes: Screen Ashkenazi Jewish people by amniocentesis or chorionic villus sampling. Due to deficient hexosaminidase A enzyme.

Question: What fits these findings?

Tyrosinemia

Category: generalpediatrics-Metabolic Disorders

Findings: jaundice, oliguria, cabbage-like odor, vomiting, frequent nose bleeds, hepatoblastoma, cognitive issues

Notes: Problems breaking down tyrosine, which accumulates in various organs including liver, kidney, and brain. Treat with low tyrosine diet and checking electrolytes and liver function regularly.

Von Gierke Disease

Category: generalpediatrics-Metabolic Disorders

Findings: fat cheeks, thin and short, hypoglycemia when fasting, ketoacidosis, lactic acidosis, hyperuricemia, treated with low carb diet and complex carbs such as cornstarch

Notes: Glycogen storage disease type 1. Cornstarch slowly breaks down and helps prevent hypoglycemia.

Question: What fits these findings?

Wilson Disease

Category: generalpediatrics-Metabolic Disorders

Findings: hepatomegaly, esophageal varices, tremors, ataxia, Kayser-Fleischer ring, hemolytic anemia, low serum copper and ceruloplasmin, high urine copper, treat with penicillamine

Question: What fits these findings?