Clinical traits associated w metabolic diseases

Question 1

alopecia

Answer 1

Biotinidase deficiency

Question 2

brittle hair

Answer 2

argininosuccinic lyase deficiency
argininosuccinic acid synthetase deficiency
Menke syndrome

Question 3

Cardiomyopathy

Answer 3

LCHAD
Glutaric aciduria II
Carnitine deficiency
Pompe disease
Mitochondrial disorders of resp chain
Mucolipidoses (I-Cell disease)

Question 4

Cataracts

Answer 4

Galactosemia
galactokinase deficiency
mevalonic aciduria

Question 5

Coma/encephalopathy

Answer 5

Maple syrup urine disease (inc tone, opisthotonus
urea cycle defects
lysinuric protein intolerance
peroxismal diseases
nonketotic hyperglycenemia
proprionic, isolvaleric, methylmalonic acidurias
glutaric aciduria type II
HMG-Coa lyase def
FA oxidation defects 
pyruvate carboxylase def
mitochondrial disorders of resp chain

Question 6

Dysmorphisms

Answer 6

Zellweger: high forehead, flat orbital ridge, wide fontanel, epicanthal folds, flat nasal bridge
Homocystinuria
Glutaric aciduria type I: macrocephaly
Glutaric aciduria II: rocker bottom feet, hypospadias, high forehead, flat nasal bridge
Lysosomal storage diseases (Icell)
Pyruvate dehydrogenase complex def
Mevalonic aciduria: large fontanel, large forehead, hypertelorism, epicanthal folds, low set ears, short philtrum
Mucopolysaccharidoses: coarse facial features

Question 7

Hydrops

Answer 7

G6PD def
Lysosomal storage disease
glycogen storage disease T4

Question 8

IUGR

Answer 8

untreated maternal PKU
Cholesterol biosynthesis defects
Lysosomal storage disorders
Perismal disorders
Resp chain disorders

Question 9

Sweaty feet odor

Answer 9

isovaleric aciduria

glutaric aciduria Type II

Question 10

Thromboemboli

Answer 10

homocystinuria

Question 11

Hepatomegaly

Answer 11

Galactosemia
Glycogen storage disease
Hereditary fructose intolerance
Peroxismal diseases (Zellweger)
Tyrosinemia
LCHAD
Neimann-Pick
Gaucher
Wolman disease
pyruvate carboxylase def
lysinuric protein intolerance