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Case Study Biochem

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26 views12 pages

Case Study Biochem

Uploaded by

izsabellearwhen
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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1

A. OVERVIEW OF
THE
DISORDER/DISEASE
Probable Diagnosis:
The most probable diagnosis for this
patient is Glycogen Storage Disease
Type I (GSD I), also known as Von
Gierke disease. This is a genetic
metabolic disorder characterized by a
deficiency in the enzyme glucose-6-
phosphatase, which is responsible for
the final step in both glycogenolysis
and gluconeogenesis, preventing the
conversion of glucose-6-phosphate to
glucose.
Origin of the
Disorder/Disease:
GSD I is an autosomal
recessive genetic disorder. It is caused
by mutations in the G6PC gene, which
encodes the glucose-6-phosphatase
enzyme. These mutations result in the
enzyme being either absent or
defective, leading to impaired glucose
production from glycogen stores in the
liver and kidneys. The lack of glucose
release from glycogen storage causes
hypoglycemia during fasting and leads
to the accumulation of glycogen in
these organs.
B. CASE HISTORY
Patient
12-year-old girl with an enlarged abdomen.
Symptoms:
• Frequent episodes of weakness, sweating, and pallor relieved
by eating.
• Delayed development milestones: sat at 1 year, walked
unassisted at 2 years.
• Poor academic performance in school.
• Bloated and swollen stomachs compared to its original size.
B. CASE HISTORY

Physical
Examination:
• Subnormal weight (23 kg) despite normal vital signs.
• Enlarged liver extending into the pelvis.
• Other organs, like the spleen and kidneys, were
unremarkable.
C.
LABORATORY
IDENTIFICATIO
N
Low blood glucose
• Confirms hypoglycemia due to an inability to release
glucose from glycogen stores.
• Indicates a deficiency in maintaining normal blood
sugar levels

Low pH and High lactate


• Indicates lactic acidosis, caused by defective
glucose Metabolism.
• -Suggests acidosis, potentially caused by lactate
buildup from impaired glucose utilization.
C.
LABORATORY
IDENTIFICATIO
N and Fatty acids
High Triglycerides
• Means lipid dysregulation as the body relies on fat
metabolism due to glucose deficiency.
• Indicates a shift towards fat breakdown for energy due
to ineffective glucose utilization.

Ketones
• The presence of ketones suggests impaired glucose
utilization, with the body shifting to alternative energy
sources.
C.
LABORATORY
IDENTIFICATIO
N
High hepatic glycogen content with normal structure
• Implies that glycogen is stored normally but cannot be
broken down effectively due to enzyme Deficiency.
• Points to glycogen accumulation in the liver, highlighting
a breakdown issue.
• Shows structurally normal glycogen, implying impaired
breakdown processes.
C.
LABORATORY
IDENTIFICATIO
N
Very low glucose-6-phosphatase levels
• are definitive biochemical markers for GSD Type
Confirming the diagnosis.
• key diagnostic finding indicating a deficiency in the
enzyme crucial for glycogen breakdown and glucose
release, explaining metabolic abnormalities.
DISCUSSION
Symptoms:
The symptoms observed in this patient are characteristic of Glycogen Storage
Disease Type I (Von Gierke's Disease)
•Hypoglycemia
•Enlarged abdomen (Hepatomegaly)
•Delayed growth and development.
•Lactic acidosis, hyperlipidemia, hyperuricemia, and other metabolic
abnormalities.
Treatment
the condition cannot be treated, however, preventing hypoglycemia through:
• Dietary management
• Monitoring the frequent glucose intake and nutritional intakes together with its
level
• Liver transplant may be considered in severe cases.
DISCUSSION
PREVENTION
• genetic counseling for the family with a history of the said condition can
manage the GSD I.
• Newborn screening programs in high-risk populations.
Conclusio
n
This case evidently shows a twelve year old female child suffering from Glycogen
Storage Disease Type I commonly known as Von Gierke’s Disease, a genetic disorder
that results to failure by the body to metabolize glycogen and release glucose. In
particular, the patient experiences low blood sugar level, liver enlargement, slow
growth, and others.
By managing her condition through frequent small meals, avoiding certain foods, and
using slow-release carbohydrates, her symptoms can be controlled. Early diagnosis
and proper care are essential to improve her quality of life and prevent serious
complications. With the right treatment and support, patients with this disease can
live healthier lives.

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